Canonical Allele Identifier: CA10626131

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 355809
• ClinVar RCV Id: RCV000281226 ; RCV000375704 ; RCV002058560
• dbSNP Id: rs576598951
• gnomAD v4: 6-152141315-G-T
• MyVariant Identifiers: chr6:g.152462450G>T (hg19) ; chr6:g.152141315G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141315G>T , CM000668.2:g.152141315G>T	GRCh38
NC_000006.11:g.152462450G>T , CM000668.1:g.152462450G>T	GRCh37
NC_000006.10:g.152504143G>T	NCBI36
NG_012855.1:g.501085C>A
NG_012855.2:g.501085C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1668C>A MANE Plus Clinical	ENSP00000346701.4:p.Gly556=
ENST00000367255.10:c.25134C>A MANE Select	ENSP00000356224.5:p.Gly8378=
ENST00000423061.6:c.24990C>A	ENSP00000396024.1:p.Gly8330=
ENST00000672154.1:c.536C>A
ENST00000672169.1:c.869C>A
ENST00000673173.1:c.891-1154C>A
ENST00000673451.1:c.906C>A	ENSP00000500189.1:p.Gly302=
ENST00000341594.9:c.23919C>A	ENSP00000341887.6:p.Gly7973=
ENST00000347037.9:n.1882C>A
ENST00000354674.4:c.1668C>A	ENSP00000346701.4:p.Gly556=
ENST00000367251.7:c.3969C>A	ENSP00000356220.3:p.Gly1323=
ENST00000367255.9:c.25134C>A	ENSP00000356224.5:p.Gly8378=
ENST00000367256.9:n.8826C>A
ENST00000367257.8:c.3072C>A	ENSP00000356226.4:p.Gly1024=
ENST00000409694.6:n.8718C>A
ENST00000423061.5:c.24990C>A	ENSP00000396024.1:p.Gly8330=
ENST00000460912.6:n.1748C>A
ENST00000478916.5:n.4156C>A
ENST00000536990.5:n.1971C>A
ENST00000539504.5:c.1599C>A	ENSP00000441052.1:p.Gly533=
NM_033071.3:c.24990C>A	NP_149062.1:p.Gly8330=
NM_182961.3:c.25134C>A	NP_892006.3:p.Gly8378=
XM_006715407.1:c.25239C>A	XP_006715470.1:p.Gly8413=
XM_006715408.1:c.25227C>A	XP_006715471.1:p.Gly8409=
XM_006715409.1:c.25218C>A	XP_006715472.1:p.Gly8406=
XM_006715410.1:c.25239C>A	XP_006715473.1:p.Gly8413=
XM_006715411.1:c.25188C>A	XP_006715474.1:p.Gly8396=
XM_006715412.1:c.25224C>A	XP_006715475.1:p.Gly8408=
XM_006715413.1:c.25170C>A	XP_006715476.1:p.Gly8390=
XM_006715414.1:c.25167C>A	XP_006715477.1:p.Gly8389=
XM_006715415.1:c.25170C>A	XP_006715478.1:p.Gly8390=
XM_006715416.1:c.25155C>A	XP_006715479.1:p.Gly8385=
XM_006715417.1:c.25098C>A	XP_006715480.1:p.Gly8366=
XM_006715420.1:c.25086C>A	XP_006715483.1:p.Gly8362=
XM_006715421.1:c.25083C>A	XP_006715484.1:p.Gly8361=
XM_006715422.1:c.25080C>A	XP_006715485.1:p.Gly8360=
XM_006715423.1:c.25239C>A	XP_006715486.1:p.Gly8413=
XM_006715424.1:c.25239C>A	XP_006715487.1:p.Gly8413=
XM_006715425.1:c.25170C>A	XP_006715488.1:p.Gly8390=
XM_011535641.1:c.25236C>A	XP_011533943.1:p.Gly8412=
XM_011535642.1:c.25224C>A	XP_011533944.1:p.Gly8408=
XM_011535643.1:c.25074C>A	XP_011533945.1:p.Gly8358=
XM_011535644.1:c.23514C>A	XP_011533946.1:p.Gly7838=
XM_011535645.1:c.23007C>A	XP_011533947.1:p.Gly7669=
XM_011535647.1:c.18474C>A	XP_011533949.1:p.Gly6158=
NM_001347701.1:c.1740C>A	NP_001334630.1:p.Gly580=
NM_001347702.1:c.1668C>A	NP_001334631.1:p.Gly556=
XM_006715408.2:c.25227C>A	XP_006715471.1:p.Gly8409=
XM_006715410.2:c.25239C>A	XP_006715473.1:p.Gly8413=
XM_006715412.2:c.25224C>A	XP_006715475.1:p.Gly8408=
XM_006715413.2:c.25170C>A	XP_006715476.1:p.Gly8390=
XM_006715415.2:c.25170C>A	XP_006715478.1:p.Gly8390=
XM_006715416.2:c.25155C>A	XP_006715479.1:p.Gly8385=
XM_006715417.2:c.25098C>A	XP_006715480.1:p.Gly8366=
XM_006715420.2:c.25086C>A	XP_006715483.1:p.Gly8362=
XM_006715421.2:c.25083C>A	XP_006715484.1:p.Gly8361=
XM_006715423.2:c.25239C>A	XP_006715486.1:p.Gly8413=
XM_006715424.2:c.25239C>A	XP_006715487.1:p.Gly8413=
XM_006715425.2:c.25170C>A	XP_006715488.1:p.Gly8390=
XM_011535641.2:c.25236C>A	XP_011533943.1:p.Gly8412=
XM_011535642.2:c.25224C>A	XP_011533944.1:p.Gly8408=
XM_011535645.2:c.23007C>A	XP_011533947.1:p.Gly7669=
XM_017010608.1:c.25239C>A	XP_016866097.1:p.Gly8413=
XM_017010609.1:c.25239C>A	XP_016866098.1:p.Gly8413=
XM_017010610.1:c.25218C>A	XP_016866099.1:p.Gly8406=
XM_017010611.2:c.25212C>A	XP_016866100.1:p.Gly8404=
XM_017010612.1:c.25161C>A	XP_016866101.1:p.Gly8387=
XM_017010613.1:c.25167C>A	XP_016866102.1:p.Gly8389=
XM_017010614.1:c.25083C>A	XP_016866103.1:p.Gly8361=
XM_017010615.1:c.25014C>A	XP_016866104.1:p.Gly8338=
XM_017010616.1:c.25170C>A	XP_016866105.1:p.Gly8390=
XM_017010617.1:c.25167C>A	XP_016866106.1:p.Gly8389=
XM_017010618.1:c.25155C>A	XP_016866107.1:p.Gly8385=
XM_017010619.1:c.23514C>A	XP_016866108.1:p.Gly7838=
NM_182961.4:c.25134C>A MANE Select	NP_892006.3:p.Gly8378=
NM_001347701.2:c.1740C>A	NP_001334630.1:p.Gly580=
NM_001347702.2:c.1668C>A MANE Plus Clinical	NP_001334631.1:p.Gly556=
NM_033071.5:c.24990C>A	NP_149062.2:p.Gly8330=