Canonical Allele Identifier: CA375313582

Gene: POMT1

Linked Data

• ClinVar Variation Id: 651359
• ClinVar RCV Id: RCV000806701
• dbSNP Id: rs1588493803
• MyVariant Identifiers: chr9:g.134396739A>C (hg19) ; chr9:g.131521352A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521352A>C , CM000671.2:g.131521352A>C	GRCh38
NC_000009.11:g.134396739A>C , CM000671.1:g.134396739A>C	GRCh37
NC_000009.10:g.133386560A>C	NCBI36
NG_008896.1:g.23451A>C
NG_008896.2:g.23451A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1543A>C	ENSP00000343034.7:p.Ile515Leu
ENST00000404875.7:n.2245A>C
ENST00000423007.6:c.1762A>C	ENSP00000404119.2:p.Ile588Leu
ENST00000677295.2:c.*2049A>C	ENSP00000504346.2:n.*2049A>C
ENST00000678264.2:c.*1888A>C	ENSP00000503157.2:n.*1888A>C
ENST00000682070.1:n.2170A>C
ENST00000682813.1:n.2109A>C
ENST00000683392.1:n.4452A>C
ENST00000683712.1:n.2110A>C
ENST00000683900.1:n.3605A>C
ENST00000684062.1:n.2371A>C
ENST00000684579.1:n.3551A>C
ENST00000684679.1:n.932A>C
ENST00000341012.12:c.1543A>C	ENSP00000343034.7:p.Ile515Leu
ENST00000372220.5:c.574A>C	ENSP00000361294.5:p.Ile192Leu
ENST00000372228.9:c.1771A>C	ENSP00000361302.3:p.Ile591Leu
ENST00000402686.8:c.1705A>C MANE Select	ENSP00000385797.4:p.Ile569Leu
ENST00000676640.1:c.1705A>C	ENSP00000503281.1:p.Ile569Leu
ENST00000676803.1:c.766A>C	ENSP00000503093.1:p.Ile256Leu
ENST00000676835.1:c.*920A>C	ENSP00000502911.1:n.*920A>C
ENST00000677029.1:c.1249A>C	ENSP00000502936.1:p.Ile417Leu
ENST00000677099.1:c.*1415A>C	ENSP00000504553.1:n.*1415A>C
ENST00000677216.1:c.1354A>C	ENSP00000503772.1:p.Ile452Leu
ENST00000677221.1:n.730A>C
ENST00000677295.1:c.*1082A>C	ENSP00000504346.1:n.*1082A>C
ENST00000677444.1:c.1650A>C
ENST00000677586.1:n.1072A>C
ENST00000677626.1:c.1354A>C	ENSP00000503552.1:p.Ile452Leu
ENST00000677853.1:c.*713A>C	ENSP00000503488.1:n.*713A>C
ENST00000678202.1:n.864A>C
ENST00000678264.1:c.*1082A>C	ENSP00000503157.1:n.*1082A>C
ENST00000678303.1:c.1615A>C	ENSP00000503696.1:p.Ile539Leu
ENST00000678366.1:c.*1954A>C	ENSP00000504353.1:n.*1954A>C
ENST00000678546.1:c.*1650A>C	ENSP00000503062.1:n.*1650A>C
ENST00000678548.1:c.*1777A>C	ENSP00000503934.1:n.*1777A>C
ENST00000678626.1:n.1541A>C
ENST00000678739.1:c.*2026A>C	ENSP00000503806.1:n.*2026A>C
ENST00000678833.1:c.*1457A>C	ENSP00000503893.1:n.*1457A>C
ENST00000679023.1:c.1543A>C	ENSP00000503718.1:p.Ile515Leu
ENST00000679076.1:c.1324A>C
ENST00000679111.1:c.*461A>C	ENSP00000504257.1:n.*461A>C
ENST00000679189.1:c.1354A>C	ENSP00000503356.1:p.Ile452Leu
ENST00000341012.11:c.1543A>C	ENSP00000343034.7:p.Ile515Leu
ENST00000372220.4:c.568A>C	ENSP00000361294.4:p.Ile190Leu
ENST00000372228.7:c.1771A>C	ENSP00000361302.3:p.Ile591Leu
ENST00000402686.7:c.1705A>C	ENSP00000385797.3:p.Ile569Leu
ENST00000404875.6:c.1354A>C	ENSP00000384531.2:p.Ile452Leu
ENST00000423007.5:c.1705A>C	ENSP00000404119.1:p.Ile569Leu
ENST00000467848.1:n.409A>C
ENST00000485278.5:n.2255A>C
ENST00000494883.1:n.248A>C
NM_001077365.1:c.1705A>C	NP_001070833.1:p.Ile569Leu
NM_001077366.1:c.1543A>C	NP_001070834.1:p.Ile515Leu
NM_001136113.1:c.1705A>C	NP_001129585.1:p.Ile569Leu
NM_001136114.1:c.1354A>C	NP_001129586.1:p.Ile452Leu
NM_007171.3:c.1771A>C	NP_009102.3:p.Ile591Leu
XM_005272156.1:c.1771A>C	XP_005272213.1:p.Ile591Leu
XM_005272158.1:c.1609A>C	XP_005272215.1:p.Ile537Leu
XM_005272159.1:c.1420A>C	XP_005272216.1:p.Ile474Leu
XM_005272162.1:c.574A>C	XP_005272219.1:p.Ile192Leu
XM_006716932.1:c.1420A>C	XP_006716995.1:p.Ile474Leu
XM_011518140.1:c.1624A>C	XP_011516442.1:p.Ile542Leu
XM_011518141.1:c.1558A>C	XP_011516443.1:p.Ile520Leu
XM_011518142.1:c.1462A>C	XP_011516444.1:p.Ile488Leu
XM_011518143.1:c.1456A>C	XP_011516445.1:p.Ile486Leu
XM_011518145.1:c.1315A>C	XP_011516447.1:p.Ile439Leu
XM_011518147.1:c.643A>C	XP_011516449.1:p.Ile215Leu
XR_929703.1:n.1947A>C
NM_001353193.1:c.1771A>C	NP_001340122.1:p.Ile591Leu
NM_001353194.1:c.1543A>C	NP_001340123.1:p.Ile515Leu
NM_001353195.1:c.1354A>C	NP_001340124.1:p.Ile452Leu
NM_001353196.1:c.1615A>C	NP_001340125.1:p.Ile539Leu
NM_001353197.1:c.1609A>C	NP_001340126.1:p.Ile537Leu
NM_001353198.1:c.1609A>C	NP_001340127.1:p.Ile537Leu
NM_001353199.1:c.1420A>C	NP_001340128.1:p.Ile474Leu
NM_001353200.1:c.1249A>C	NP_001340129.1:p.Ile417Leu
NR_148391.1:n.1755A>C
NR_148392.1:n.1973A>C
NR_148393.1:n.1894A>C
NR_148394.1:n.1648A>C
NR_148395.1:n.2046A>C
NR_148396.1:n.1680A>C
NR_148397.1:n.1805A>C
NR_148398.1:n.1760A>C
NR_148399.1:n.2286A>C
NR_148400.1:n.1885A>C
XM_005272162.3:c.574A>C	XP_005272219.1:p.Ile192Leu
XM_006716932.2:c.1420A>C	XP_006716995.1:p.Ile474Leu
XM_011518140.2:c.1624A>C	XP_011516442.1:p.Ile542Leu
XM_011518141.2:c.1558A>C	XP_011516443.1:p.Ile520Leu
XM_011518142.2:c.1462A>C	XP_011516444.1:p.Ile488Leu
XM_011518143.2:c.1456A>C	XP_011516445.1:p.Ile486Leu
XM_011518145.2:c.1315A>C	XP_011516447.1:p.Ile439Leu
XM_017014205.2:c.574A>C	XP_016869694.1:p.Ile192Leu
XM_024447380.1:c.574A>C	XP_024303148.1:p.Ile192Leu
XM_024447381.1:c.880A>C	XP_024303149.1:p.Ile294Leu
XM_024447382.1:c.574A>C	XP_024303150.1:p.Ile192Leu
XR_001746160.2:n.1875A>C
XR_001746162.2:n.2080A>C
XR_001746164.1:n.1797A>C
XR_001746166.2:n.2092A>C
NM_001077365.2:c.1705A>C MANE Select	NP_001070833.1:p.Ile569Leu
NM_001077366.2:c.1543A>C	NP_001070834.1:p.Ile515Leu
NM_001136113.2:c.1705A>C	NP_001129585.1:p.Ile569Leu
NM_001136114.2:c.1354A>C	NP_001129586.1:p.Ile452Leu
NM_001353193.2:c.1771A>C	NP_001340122.2:p.Ile591Leu
NM_001353194.2:c.1543A>C	NP_001340123.1:p.Ile515Leu
NM_001353195.2:c.1354A>C	NP_001340124.1:p.Ile452Leu
NM_001353196.2:c.1615A>C	NP_001340125.1:p.Ile539Leu
NM_001353197.2:c.1609A>C	NP_001340126.2:p.Ile537Leu
NM_001353198.2:c.1609A>C	NP_001340127.2:p.Ile537Leu
NM_001353199.2:c.1420A>C	NP_001340128.2:p.Ile474Leu
NM_001353200.2:c.1249A>C	NP_001340129.1:p.Ile417Leu
NM_001374689.1:c.1693A>C	NP_001361618.1:p.Ile565Leu
NM_001374690.1:c.1486A>C	NP_001361619.1:p.Ile496Leu
NM_001374691.1:c.1354A>C	NP_001361620.1:p.Ile452Leu
NM_001374692.1:c.1354A>C	NP_001361621.1:p.Ile452Leu
NM_001374693.1:c.1354A>C	NP_001361622.1:p.Ile452Leu
NM_001374695.1:c.1315A>C	NP_001361624.1:p.Ile439Leu
NM_007171.4:c.1771A>C	NP_009102.4:p.Ile591Leu
NR_148391.2:n.1739A>C
NR_148392.2:n.1957A>C
NR_148393.2:n.1878A>C
NR_148394.2:n.1632A>C
NR_148395.2:n.2030A>C
NR_148396.2:n.1664A>C
NR_148397.2:n.1789A>C
NR_148398.2:n.1744A>C
NR_148399.2:n.2270A>C
NR_148400.2:n.1869A>C