Canonical Allele Identifier: CA10605581

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 286819
• ClinVar RCV Id: RCV000377848 ; RCV003765645
• dbSNP Id: rs886043491
• gnomAD v4: 6-152471612-A-G
• MyVariant Identifiers: chr6:g.152792747A>G (hg19) ; chr6:g.152471612A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152471612A>G , CM000668.2:g.152471612A>G	GRCh38
NC_000006.11:g.152792747A>G , CM000668.1:g.152792747A>G	GRCh37
NC_000006.10:g.152834440A>G	NCBI36
NG_012855.1:g.170788T>C
NG_012855.2:g.170788T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.1617T>C MANE Select	ENSP00000356224.5:p.Leu539=
ENST00000423061.6:c.1638T>C	ENSP00000396024.1:p.Leu546=
ENST00000535896.7:c.1611T>C	ENSP00000500235.1:p.Leu537=
ENST00000672122.1:c.1560T>C	ENSP00000500559.1:p.Leu520=
ENST00000673163.1:c.*1587T>C	ENSP00000499934.1:n.*1587T>C
ENST00000673281.1:c.1611T>C	ENSP00000500893.1:p.Leu537=
ENST00000341594.9:c.1587T>C	ENSP00000341887.6:p.Leu529=
ENST00000367248.7:c.1587T>C	ENSP00000356217.3:p.Leu529=
ENST00000367253.8:c.1617T>C	ENSP00000356222.4:p.Leu539=
ENST00000367255.9:c.1617T>C	ENSP00000356224.5:p.Leu539=
ENST00000413186.6:c.1617T>C	ENSP00000414510.2:p.Leu539=
ENST00000423061.5:c.1638T>C	ENSP00000396024.1:p.Leu546=
ENST00000461872.6:n.1835T>C
ENST00000466159.6:c.1617T>C	ENSP00000446021.1:p.Leu539=
ENST00000468937.2:n.373T>C
ENST00000474655.6:c.219T>C
ENST00000481502.5:n.228T>C
ENST00000495090.6:c.318T>C	ENSP00000438508.1:p.Leu106=
ENST00000535896.6:n.437T>C
ENST00000537750.5:c.1566T>C	ENSP00000441264.1:p.Leu522=
NM_033071.3:c.1638T>C	NP_149062.1:p.Leu546=
NM_182961.3:c.1617T>C	NP_892006.3:p.Leu539=
XM_006715407.1:c.1638T>C	XP_006715470.1:p.Leu546=
XM_006715408.1:c.1638T>C	XP_006715471.1:p.Leu546=
XM_006715409.1:c.1617T>C	XP_006715472.1:p.Leu539=
XM_006715410.1:c.1638T>C	XP_006715473.1:p.Leu546=
XM_006715411.1:c.1587T>C	XP_006715474.1:p.Leu529=
XM_006715412.1:c.1638T>C	XP_006715475.1:p.Leu546=
XM_006715413.1:c.1638T>C	XP_006715476.1:p.Leu546=
XM_006715414.1:c.1566T>C	XP_006715477.1:p.Leu522=
XM_006715415.1:c.1638T>C	XP_006715478.1:p.Leu546=
XM_006715416.1:c.1638T>C	XP_006715479.1:p.Leu546=
XM_006715417.1:c.1638T>C	XP_006715480.1:p.Leu546=
XM_006715420.1:c.1638T>C	XP_006715483.1:p.Leu546=
XM_006715421.1:c.1638T>C	XP_006715484.1:p.Leu546=
XM_006715422.1:c.1638T>C	XP_006715485.1:p.Leu546=
XM_006715423.1:c.1638T>C	XP_006715486.1:p.Leu546=
XM_006715424.1:c.1638T>C	XP_006715487.1:p.Leu546=
XM_006715425.1:c.1638T>C	XP_006715488.1:p.Leu546=
XM_011535641.1:c.1638T>C	XP_011533943.1:p.Leu546=
XM_011535642.1:c.1638T>C	XP_011533944.1:p.Leu546=
XM_011535643.1:c.1638T>C	XP_011533945.1:p.Leu546=
XM_011535644.1:c.-88T>C	XP_011533946.1:n.-88T>C
XM_011535646.1:c.1638T>C	XP_011533948.1:p.Leu546=
XM_006715408.2:c.1638T>C	XP_006715471.1:p.Leu546=
XM_006715410.2:c.1638T>C	XP_006715473.1:p.Leu546=
XM_006715412.2:c.1638T>C	XP_006715475.1:p.Leu546=
XM_006715413.2:c.1638T>C	XP_006715476.1:p.Leu546=
XM_006715415.2:c.1638T>C	XP_006715478.1:p.Leu546=
XM_006715416.2:c.1638T>C	XP_006715479.1:p.Leu546=
XM_006715417.2:c.1638T>C	XP_006715480.1:p.Leu546=
XM_006715420.2:c.1638T>C	XP_006715483.1:p.Leu546=
XM_006715421.2:c.1638T>C	XP_006715484.1:p.Leu546=
XM_006715423.2:c.1638T>C	XP_006715486.1:p.Leu546=
XM_006715424.2:c.1638T>C	XP_006715487.1:p.Leu546=
XM_006715425.2:c.1638T>C	XP_006715488.1:p.Leu546=
XM_011535641.2:c.1638T>C	XP_011533943.1:p.Leu546=
XM_011535642.2:c.1638T>C	XP_011533944.1:p.Leu546=
XM_017010608.1:c.1638T>C	XP_016866097.1:p.Leu546=
XM_017010609.1:c.1638T>C	XP_016866098.1:p.Leu546=
XM_017010610.1:c.1617T>C	XP_016866099.1:p.Leu539=
XM_017010611.2:c.1611T>C	XP_016866100.1:p.Leu537=
XM_017010612.1:c.1560T>C	XP_016866101.1:p.Leu520=
XM_017010613.1:c.1638T>C	XP_016866102.1:p.Leu546=
XM_017010614.1:c.1638T>C	XP_016866103.1:p.Leu546=
XM_017010615.1:c.1638T>C	XP_016866104.1:p.Leu546=
XM_017010616.1:c.1638T>C	XP_016866105.1:p.Leu546=
XM_017010617.1:c.1638T>C	XP_016866106.1:p.Leu546=
XM_017010618.1:c.1638T>C	XP_016866107.1:p.Leu546=
XM_017010619.1:c.-88T>C	XP_016866108.1:n.-88T>C
XR_001743287.1:n.2121T>C
NM_182961.4:c.1617T>C MANE Select	NP_892006.3:p.Leu539=
NM_033071.5:c.1638T>C	NP_149062.2:p.Leu546=