Canonical Allele Identifier: CA4052872

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 2577174
• ClinVar RCV Id: RCV003324251
• dbSNP Id: rs752405799
• ExAC: 6:152461285 G / A
• gnomAD v2: 6-152461285-G-A
• gnomAD v3: 6-152140150-G-A
• gnomAD v4: 6-152140150-G-A
• MyVariant Identifiers: chr6:g.152461285G>A (hg19) ; chr6:g.152140150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140150G>A , CM000668.2:g.152140150G>A	GRCh38
NC_000006.11:g.152461285G>A , CM000668.1:g.152461285G>A	GRCh37
NC_000006.10:g.152502978G>A	NCBI36
NG_012855.1:g.502250C>T
NG_012855.2:g.502250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1792C>T MANE Plus Clinical	ENSP00000346701.4:p.Arg598Ter
ENST00000367255.10:c.25258C>T MANE Select	ENSP00000356224.5:p.Arg8420Ter
ENST00000423061.6:c.25114C>T	ENSP00000396024.1:p.Arg8372Ter
ENST00000672154.1:c.660C>T
ENST00000672169.1:c.993C>T
ENST00000673173.1:c.902C>T
ENST00000673451.1:c.1030C>T	ENSP00000500189.1:p.Arg344Ter
ENST00000341594.9:c.24043C>T	ENSP00000341887.6:p.Arg8015Ter
ENST00000347037.9:n.2006C>T
ENST00000354674.4:c.1792C>T	ENSP00000346701.4:p.Arg598Ter
ENST00000367251.7:c.4093C>T	ENSP00000356220.3:p.Arg1365Ter
ENST00000367255.9:c.25258C>T	ENSP00000356224.5:p.Arg8420Ter
ENST00000367256.9:n.8950C>T
ENST00000367257.8:c.3196C>T	ENSP00000356226.4:p.Arg1066Ter
ENST00000409694.6:n.8842C>T
ENST00000423061.5:c.25114C>T	ENSP00000396024.1:p.Arg8372Ter
ENST00000460912.6:n.1872C>T
ENST00000478916.5:n.4280C>T
ENST00000536990.5:n.2095C>T
ENST00000539504.5:c.1723C>T	ENSP00000441052.1:p.Arg575Ter
NM_033071.3:c.25114C>T	NP_149062.1:p.Arg8372Ter
NM_182961.3:c.25258C>T	NP_892006.3:p.Arg8420Ter
XM_006715407.1:c.25363C>T	XP_006715470.1:p.Arg8455Ter
XM_006715408.1:c.25351C>T	XP_006715471.1:p.Arg8451Ter
XM_006715409.1:c.25342C>T	XP_006715472.1:p.Arg8448Ter
XM_006715410.1:c.25363C>T	XP_006715473.1:p.Arg8455Ter
XM_006715411.1:c.25312C>T	XP_006715474.1:p.Arg8438Ter
XM_006715412.1:c.25348C>T	XP_006715475.1:p.Arg8450Ter
XM_006715413.1:c.25294C>T	XP_006715476.1:p.Arg8432Ter
XM_006715414.1:c.25291C>T	XP_006715477.1:p.Arg8431Ter
XM_006715415.1:c.25294C>T	XP_006715478.1:p.Arg8432Ter
XM_006715416.1:c.25279C>T	XP_006715479.1:p.Arg8427Ter
XM_006715417.1:c.25222C>T	XP_006715480.1:p.Arg8408Ter
XM_006715420.1:c.25210C>T	XP_006715483.1:p.Arg8404Ter
XM_006715421.1:c.25207C>T	XP_006715484.1:p.Arg8403Ter
XM_006715422.1:c.25204C>T	XP_006715485.1:p.Arg8402Ter
XM_006715423.1:c.25363C>T	XP_006715486.1:p.Arg8455Ter
XM_006715424.1:c.25363C>T	XP_006715487.1:p.Arg8455Ter
XM_006715425.1:c.25294C>T	XP_006715488.1:p.Arg8432Ter
XM_011535641.1:c.25360C>T	XP_011533943.1:p.Arg8454Ter
XM_011535642.1:c.25348C>T	XP_011533944.1:p.Arg8450Ter
XM_011535643.1:c.25198C>T	XP_011533945.1:p.Arg8400Ter
XM_011535644.1:c.23638C>T	XP_011533946.1:p.Arg7880Ter
XM_011535645.1:c.23131C>T	XP_011533947.1:p.Arg7711Ter
XM_011535647.1:c.18598C>T	XP_011533949.1:p.Arg6200Ter
NM_001347701.1:c.1864C>T	NP_001334630.1:p.Arg622Ter
NM_001347702.1:c.1792C>T	NP_001334631.1:p.Arg598Ter
XM_006715408.2:c.25351C>T	XP_006715471.1:p.Arg8451Ter
XM_006715410.2:c.25363C>T	XP_006715473.1:p.Arg8455Ter
XM_006715412.2:c.25348C>T	XP_006715475.1:p.Arg8450Ter
XM_006715413.2:c.25294C>T	XP_006715476.1:p.Arg8432Ter
XM_006715415.2:c.25294C>T	XP_006715478.1:p.Arg8432Ter
XM_006715416.2:c.25279C>T	XP_006715479.1:p.Arg8427Ter
XM_006715417.2:c.25222C>T	XP_006715480.1:p.Arg8408Ter
XM_006715420.2:c.25210C>T	XP_006715483.1:p.Arg8404Ter
XM_006715421.2:c.25207C>T	XP_006715484.1:p.Arg8403Ter
XM_006715423.2:c.25363C>T	XP_006715486.1:p.Arg8455Ter
XM_006715424.2:c.25363C>T	XP_006715487.1:p.Arg8455Ter
XM_006715425.2:c.25294C>T	XP_006715488.1:p.Arg8432Ter
XM_011535641.2:c.25360C>T	XP_011533943.1:p.Arg8454Ter
XM_011535642.2:c.25348C>T	XP_011533944.1:p.Arg8450Ter
XM_011535645.2:c.23131C>T	XP_011533947.1:p.Arg7711Ter
XM_017010608.1:c.25363C>T	XP_016866097.1:p.Arg8455Ter
XM_017010609.1:c.25363C>T	XP_016866098.1:p.Arg8455Ter
XM_017010610.1:c.25342C>T	XP_016866099.1:p.Arg8448Ter
XM_017010611.2:c.25336C>T	XP_016866100.1:p.Arg8446Ter
XM_017010612.1:c.25285C>T	XP_016866101.1:p.Arg8429Ter
XM_017010613.1:c.25291C>T	XP_016866102.1:p.Arg8431Ter
XM_017010614.1:c.25207C>T	XP_016866103.1:p.Arg8403Ter
XM_017010615.1:c.25138C>T	XP_016866104.1:p.Arg8380Ter
XM_017010616.1:c.25294C>T	XP_016866105.1:p.Arg8432Ter
XM_017010617.1:c.25291C>T	XP_016866106.1:p.Arg8431Ter
XM_017010618.1:c.25279C>T	XP_016866107.1:p.Arg8427Ter
XM_017010619.1:c.23638C>T	XP_016866108.1:p.Arg7880Ter
NM_182961.4:c.25258C>T MANE Select	NP_892006.3:p.Arg8420Ter
NM_001347701.2:c.1864C>T	NP_001334630.1:p.Arg622Ter
NM_001347702.2:c.1792C>T MANE Plus Clinical	NP_001334631.1:p.Arg598Ter
NM_033071.5:c.25114C>T	NP_149062.2:p.Arg8372Ter