Canonical Allele Identifier: CA351777

Gene: SLMAP

Linked Data

• ClinVar Variation Id: 222824
• ClinVar RCV Id: RCV000208110
• dbSNP Id: rs869025527
• MyVariant Identifiers: chr3:g.57898429G>A (hg19) ; chr3:g.57912702G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57912702G>A , CM000665.2:g.57912702G>A	GRCh38
NC_000003.11:g.57898429G>A , CM000665.1:g.57898429G>A	GRCh37
NC_000003.10:g.57873469G>A	NCBI36
NG_042789.1:g.160447G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417128.7:c.1906+1G>A	ENSP00000412829.3:n.1906+1G>A
ENST00000438794.6:c.1969+1G>A	ENSP00000391886.2:n.1969+1G>A
ENST00000465203.6:c.1846+1G>A	ENSP00000419849.2:n.1846+1G>A
ENST00000475055.2:c.1783+1G>A	ENSP00000499520.2:n.1783+1G>A
ENST00000670768.2:c.1906+1G>A	ENSP00000499553.2:n.1906+1G>A
ENST00000705628.1:c.2041+1G>A	ENSP00000516144.1:n.2041+1G>A
ENST00000705629.1:c.1846+1G>A	ENSP00000516145.1:n.1846+1G>A
ENST00000705630.1:c.2020+1G>A	ENSP00000516146.1:n.2020+1G>A
ENST00000705648.1:c.1855+1G>A	ENSP00000516147.1:n.1855+1G>A
ENST00000705649.1:c.1576+3552G>A	ENSP00000516148.1:n.1576+3552G>A
ENST00000705650.1:c.1657+1G>A	ENSP00000516149.1:n.1657+1G>A
ENST00000705651.1:c.1795+1G>A	ENSP00000516150.1:n.1795+1G>A
ENST00000705652.1:c.1945+1G>A	ENSP00000516151.1:n.1945+1G>A
ENST00000705653.1:c.1738+1G>A	ENSP00000516152.1:n.1738+1G>A
ENST00000705654.1:n.3518+1G>A
ENST00000417128.6:c.1158+1G>A
ENST00000428312.6:c.1732+1G>A	ENSP00000398661.2:n.1732+1G>A
ENST00000494088.6:c.571+1G>A	ENSP00000418218.2:n.571+1G>A
ENST00000657480.1:c.*765+1G>A	ENSP00000499567.1:n.*765+1G>A
ENST00000658689.1:c.793+1G>A
ENST00000659705.1:c.1969+1G>A	ENSP00000499241.1:n.1969+1G>A
ENST00000659926.1:c.*585+1G>A	ENSP00000499233.1:n.*585+1G>A
ENST00000662629.1:c.838+1G>A
ENST00000664084.1:c.*1657+1G>A	ENSP00000499727.1:n.*1657+1G>A
ENST00000667800.1:c.*448+1G>A	ENSP00000499603.1:n.*448+1G>A
ENST00000670768.1:c.915+1G>A
ENST00000671191.1:c.2020+1G>A MANE Select	ENSP00000499458.1:n.2020+1G>A
ENST00000295951.7:c.1918+1G>A	ENSP00000295951.3:n.1918+1G>A
ENST00000295952.7:c.1918+1G>A	ENSP00000295952.3:n.1918+1G>A
ENST00000416658.5:c.791+1G>A
ENST00000417128.5:c.720+1G>A
ENST00000428312.5:c.1969+1G>A	ENSP00000398661.1:n.1969+1G>A
ENST00000438794.5:c.581+1G>A
ENST00000449503.6:c.1855+1G>A	ENSP00000412945.2:n.1855+1G>A
ENST00000476471.1:n.407+1G>A
ENST00000494088.5:c.448+1G>A	ENSP00000418218.1:n.448+1G>A
ENST00000495364.5:c.571+1G>A	ENSP00000419543.1:n.571+1G>A
NM_001304420.1:c.1969+1G>A	NP_001291349.1:n.1969+1G>A
NM_001304420.2:c.1969+1G>A	NP_001291349.1:n.1969+1G>A
NM_001304421.1:c.1855+1G>A	NP_001291350.1:n.1855+1G>A
NM_001304421.2:c.1855+1G>A	NP_001291350.1:n.1855+1G>A
NM_001304422.1:c.571+1G>A	NP_001291351.1:n.571+1G>A
NM_001304422.2:c.571+1G>A	NP_001291351.1:n.571+1G>A
NM_001304423.1:c.373+1G>A	NP_001291352.1:n.373+1G>A
NM_001304423.2:c.373+1G>A	NP_001291352.1:n.373+1G>A
NM_001311178.1:c.571+1G>A	NP_001298107.1:n.571+1G>A
NM_001311179.1:c.448+1G>A	NP_001298108.1:n.448+1G>A
NM_007159.3:c.1918+1G>A	NP_009090.2:n.1918+1G>A
NM_007159.4:c.1918+1G>A	NP_009090.2:n.1918+1G>A
XM_005265456.3:c.2026+1G>A	XP_005265513.1:n.2026+1G>A
XM_005265457.3:c.2020+1G>A	XP_005265514.1:n.2020+1G>A
XM_005265458.3:c.2026+1G>A	XP_005265515.1:n.2026+1G>A
XM_005265459.3:c.1975+1G>A	XP_005265516.1:n.1975+1G>A
XM_005265460.3:c.1975+1G>A	XP_005265517.1:n.1975+1G>A
XM_005265461.3:c.1969+1G>A	XP_005265518.1:n.1969+1G>A
XM_005265462.3:c.1963+1G>A	XP_005265519.1:n.1963+1G>A
XM_005265464.3:c.1957+1G>A	XP_005265521.1:n.1957+1G>A
XM_005265465.3:c.1924+1G>A	XP_005265522.1:n.1924+1G>A
XM_005265466.3:c.1918+1G>A	XP_005265523.1:n.1918+1G>A
XM_005265467.3:c.1912+1G>A	XP_005265524.1:n.1912+1G>A
XM_005265468.3:c.1903+1G>A	XP_005265525.1:n.1903+1G>A
XM_005265470.3:c.1861+1G>A	XP_005265527.1:n.1861+1G>A
XM_005265471.3:c.1855+1G>A	XP_005265528.1:n.1855+1G>A
XM_005265472.3:c.1789+1G>A	XP_005265529.1:n.1789+1G>A
XM_006713326.2:c.1795+1G>A	XP_006713389.1:n.1795+1G>A
XM_011534103.1:c.1912+1G>A	XP_011532405.1:n.1912+1G>A
XM_011534104.1:c.1801+1G>A	XP_011532406.1:n.1801+1G>A
XM_011534105.1:c.1738+1G>A	XP_011532407.1:n.1738+1G>A
XM_011534106.1:c.571+1G>A	XP_011532408.1:n.571+1G>A
XM_011534107.1:c.448+1G>A	XP_011532409.1:n.448+1G>A
XR_940867.1:n.1911+4482C>T
XR_940868.1:n.1912-781C>T
XR_940869.1:n.1911+4482C>T
XR_940870.1:n.968+4482C>T
XR_940871.1:n.1911+4482C>T
XR_940872.1:n.1912-781C>T
XR_940873.1:n.1911+4482C>T
XM_005265456.4:c.2026+1G>A	XP_005265513.1:n.2026+1G>A
XM_005265457.4:c.2020+1G>A	XP_005265514.1:n.2020+1G>A
XM_005265458.4:c.2026+1G>A	XP_005265515.1:n.2026+1G>A
XM_005265459.4:c.1975+1G>A	XP_005265516.1:n.1975+1G>A
XM_005265460.4:c.1975+1G>A	XP_005265517.1:n.1975+1G>A
XM_005265461.4:c.1969+1G>A	XP_005265518.1:n.1969+1G>A
XM_005265462.4:c.1963+1G>A	XP_005265519.1:n.1963+1G>A
XM_005265464.4:c.1957+1G>A	XP_005265521.1:n.1957+1G>A
XM_005265465.4:c.1924+1G>A	XP_005265522.1:n.1924+1G>A
XM_005265466.4:c.1918+1G>A	XP_005265523.1:n.1918+1G>A
XM_005265467.4:c.1912+1G>A	XP_005265524.1:n.1912+1G>A
XM_005265468.4:c.1903+1G>A	XP_005265525.1:n.1903+1G>A
XM_005265470.4:c.1861+1G>A	XP_005265527.1:n.1861+1G>A
XM_005265471.4:c.1855+1G>A	XP_005265528.1:n.1855+1G>A
XM_005265472.4:c.1789+1G>A	XP_005265529.1:n.1789+1G>A
XM_006713326.3:c.1795+1G>A	XP_006713389.1:n.1795+1G>A
XM_011534103.2:c.1912+1G>A	XP_011532405.1:n.1912+1G>A
XM_011534104.2:c.1801+1G>A	XP_011532406.1:n.1801+1G>A
XM_011534105.2:c.1738+1G>A	XP_011532407.1:n.1738+1G>A
XM_011534106.2:c.571+1G>A	XP_011532408.1:n.571+1G>A
XM_017007146.2:c.2020+1G>A	XP_016862635.1:n.2020+1G>A
XM_017007147.2:c.1969+1G>A	XP_016862636.1:n.1969+1G>A
XM_017007148.2:c.1975+1G>A	XP_016862637.1:n.1975+1G>A
XM_017007149.2:c.1969+1G>A	XP_016862638.1:n.1969+1G>A
XM_017007150.2:c.1969+1G>A	XP_016862639.1:n.1969+1G>A
XM_017007151.2:c.1924+1G>A	XP_016862640.1:n.1924+1G>A
XM_017007152.2:c.1918+1G>A	XP_016862641.1:n.1918+1G>A
XM_017007153.2:c.1906+1G>A	XP_016862642.1:n.1906+1G>A
XM_017007154.2:c.1906+1G>A	XP_016862643.1:n.1906+1G>A
XM_017007155.2:c.1897+1G>A	XP_016862644.1:n.1897+1G>A
XM_017007156.2:c.1903+1G>A	XP_016862645.1:n.1903+1G>A
XM_017007157.2:c.1897+1G>A	XP_016862646.1:n.1897+1G>A
XM_017007158.2:c.1861+1G>A	XP_016862647.1:n.1861+1G>A
XM_017007159.2:c.1852+1G>A	XP_016862648.1:n.1852+1G>A
XM_017007160.2:c.1855+1G>A	XP_016862649.1:n.1855+1G>A
XM_017007161.2:c.1846+1G>A	XP_016862650.1:n.1846+1G>A
XM_017007162.2:c.1852+1G>A	XP_016862651.1:n.1852+1G>A
XM_017007163.2:c.1846+1G>A	XP_016862652.1:n.1846+1G>A
XM_017007164.2:c.1795+1G>A	XP_016862653.1:n.1795+1G>A
XM_017007165.2:c.1783+1G>A	XP_016862654.1:n.1783+1G>A
XM_017007166.2:c.1783+1G>A	XP_016862655.1:n.1783+1G>A
XM_017007167.2:c.1738+1G>A	XP_016862656.1:n.1738+1G>A
XM_017007168.2:c.1732+1G>A	XP_016862657.1:n.1732+1G>A
XM_017007170.2:c.571+1G>A	XP_016862659.1:n.571+1G>A
XR_001740259.2:n.3369+1G>A
XR_001740260.2:n.3369+1G>A
XR_001740261.2:n.3246+1G>A
XR_001740262.2:n.3240+1G>A
XR_001740263.2:n.3306+1G>A
XR_001740711.1:n.347-781C>T
XR_001740712.1:n.492+4482C>T
XR_001740713.1:n.346+4482C>T
XR_001740714.1:n.346+4482C>T
XR_940867.2:n.346+4482C>T
NM_001304422.3:c.571+1G>A	NP_001291351.1:n.571+1G>A
NM_001304423.3:c.373+1G>A	NP_001291352.1:n.373+1G>A
NM_001304420.3:c.1969+1G>A	NP_001291349.1:n.1969+1G>A
NM_001311178.2:c.571+1G>A	NP_001298107.1:n.571+1G>A
NM_001311179.2:c.448+1G>A	NP_001298108.1:n.448+1G>A
NM_001377538.1:c.2041+1G>A	NP_001364467.1:n.2041+1G>A
NM_001377539.1:c.2020+1G>A	NP_001364468.1:n.2020+1G>A
NM_001377540.1:c.2020+1G>A MANE Select	NP_001364469.1:n.2020+1G>A
NM_001377541.1:c.1969+1G>A	NP_001364470.1:n.1969+1G>A
NM_001377542.1:c.1969+1G>A	NP_001364471.1:n.1969+1G>A
NM_001377545.1:c.1957+1G>A	NP_001364474.1:n.1957+1G>A
NM_001377549.1:c.1918+1G>A	NP_001364478.1:n.1918+1G>A
NM_001377551.1:c.1906+1G>A	NP_001364480.1:n.1906+1G>A
NM_001377552.1:c.1906+1G>A	NP_001364481.1:n.1906+1G>A
NM_001377555.1:c.1897+1G>A	NP_001364484.1:n.1897+1G>A
NM_001377557.1:c.1855+1G>A	NP_001364486.1:n.1855+1G>A
NM_001377559.1:c.1855+1G>A	NP_001364488.1:n.1855+1G>A
NM_001377562.1:c.1846+1G>A	NP_001364491.1:n.1846+1G>A
NM_001377921.1:c.1846+1G>A	NP_001364850.1:n.1846+1G>A
NM_001377922.1:c.1834+1G>A	NP_001364851.1:n.1834+1G>A
NM_001377923.1:c.1795+1G>A	NP_001364852.1:n.1795+1G>A
NM_001377924.1:c.1783+1G>A	NP_001364853.1:n.1783+1G>A
NM_001377925.1:c.1732+1G>A	NP_001364854.1:n.1732+1G>A
NM_001377926.1:c.448+1G>A	NP_001364855.1:n.448+1G>A
NM_001377927.1:c.448+1G>A	NP_001364856.1:n.448+1G>A
NM_001377928.1:c.448+1G>A	NP_001364857.1:n.448+1G>A
NM_007159.5:c.1918+1G>A	NP_009090.2:n.1918+1G>A
NR_165328.1:n.3064+1G>A