Canonical Allele Identifier: CA452969892

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 1632537
• ClinVar RCV Id: RCV002119093
• dbSNP Id: rs1292954995
• gnomAD v2: 6-152461196-C-T
• gnomAD v4: 6-152140061-C-T
• MyVariant Identifiers: chr6:g.152461196C>T (hg19) ; chr6:g.152140061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140061C>T , CM000668.2:g.152140061C>T	GRCh38
NC_000006.11:g.152461196C>T , CM000668.1:g.152461196C>T	GRCh37
NC_000006.10:g.152502889C>T	NCBI36
NG_012855.1:g.502339G>A
NG_012855.2:g.502339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1881G>A MANE Plus Clinical	ENSP00000346701.4:p.Leu627=
ENST00000367255.10:c.25347G>A MANE Select	ENSP00000356224.5:p.Leu8449=
ENST00000423061.6:c.25203G>A	ENSP00000396024.1:p.Leu8401=
ENST00000672154.1:c.749G>A
ENST00000672169.1:c.1082G>A
ENST00000673173.1:c.991G>A
ENST00000673451.1:c.1119G>A	ENSP00000500189.1:p.Leu373=
ENST00000341594.9:c.24132G>A	ENSP00000341887.6:p.Leu8044=
ENST00000347037.9:n.2095G>A
ENST00000354674.4:c.1881G>A	ENSP00000346701.4:p.Leu627=
ENST00000367251.7:c.4182G>A	ENSP00000356220.3:p.Leu1394=
ENST00000367255.9:c.25347G>A	ENSP00000356224.5:p.Leu8449=
ENST00000367256.9:n.9039G>A
ENST00000367257.8:c.3285G>A	ENSP00000356226.4:p.Leu1095=
ENST00000409694.6:n.8931G>A
ENST00000423061.5:c.25203G>A	ENSP00000396024.1:p.Leu8401=
ENST00000460912.6:n.1961G>A
ENST00000478916.5:n.4369G>A
ENST00000536990.5:n.2184G>A
ENST00000539504.5:c.1812G>A	ENSP00000441052.1:p.Leu604=
NM_033071.3:c.25203G>A	NP_149062.1:p.Leu8401=
NM_182961.3:c.25347G>A	NP_892006.3:p.Leu8449=
XM_006715407.1:c.25452G>A	XP_006715470.1:p.Leu8484=
XM_006715408.1:c.25440G>A	XP_006715471.1:p.Leu8480=
XM_006715409.1:c.25431G>A	XP_006715472.1:p.Leu8477=
XM_006715410.1:c.25452G>A	XP_006715473.1:p.Leu8484=
XM_006715411.1:c.25401G>A	XP_006715474.1:p.Leu8467=
XM_006715412.1:c.25437G>A	XP_006715475.1:p.Leu8479=
XM_006715413.1:c.25383G>A	XP_006715476.1:p.Leu8461=
XM_006715414.1:c.25380G>A	XP_006715477.1:p.Leu8460=
XM_006715415.1:c.25383G>A	XP_006715478.1:p.Leu8461=
XM_006715416.1:c.25368G>A	XP_006715479.1:p.Leu8456=
XM_006715417.1:c.25311G>A	XP_006715480.1:p.Leu8437=
XM_006715420.1:c.25299G>A	XP_006715483.1:p.Leu8433=
XM_006715421.1:c.25296G>A	XP_006715484.1:p.Leu8432=
XM_006715422.1:c.25293G>A	XP_006715485.1:p.Leu8431=
XM_006715423.1:c.25452G>A	XP_006715486.1:p.Leu8484=
XM_006715424.1:c.25452G>A	XP_006715487.1:p.Leu8484=
XM_006715425.1:c.25383G>A	XP_006715488.1:p.Leu8461=
XM_011535641.1:c.25449G>A	XP_011533943.1:p.Leu8483=
XM_011535642.1:c.25437G>A	XP_011533944.1:p.Leu8479=
XM_011535643.1:c.25287G>A	XP_011533945.1:p.Leu8429=
XM_011535644.1:c.23727G>A	XP_011533946.1:p.Leu7909=
XM_011535645.1:c.23220G>A	XP_011533947.1:p.Leu7740=
XM_011535647.1:c.18687G>A	XP_011533949.1:p.Leu6229=
NM_001347701.1:c.1953G>A	NP_001334630.1:p.Leu651=
NM_001347702.1:c.1881G>A	NP_001334631.1:p.Leu627=
XM_006715408.2:c.25440G>A	XP_006715471.1:p.Leu8480=
XM_006715410.2:c.25452G>A	XP_006715473.1:p.Leu8484=
XM_006715412.2:c.25437G>A	XP_006715475.1:p.Leu8479=
XM_006715413.2:c.25383G>A	XP_006715476.1:p.Leu8461=
XM_006715415.2:c.25383G>A	XP_006715478.1:p.Leu8461=
XM_006715416.2:c.25368G>A	XP_006715479.1:p.Leu8456=
XM_006715417.2:c.25311G>A	XP_006715480.1:p.Leu8437=
XM_006715420.2:c.25299G>A	XP_006715483.1:p.Leu8433=
XM_006715421.2:c.25296G>A	XP_006715484.1:p.Leu8432=
XM_006715423.2:c.25452G>A	XP_006715486.1:p.Leu8484=
XM_006715424.2:c.25452G>A	XP_006715487.1:p.Leu8484=
XM_006715425.2:c.25383G>A	XP_006715488.1:p.Leu8461=
XM_011535641.2:c.25449G>A	XP_011533943.1:p.Leu8483=
XM_011535642.2:c.25437G>A	XP_011533944.1:p.Leu8479=
XM_011535645.2:c.23220G>A	XP_011533947.1:p.Leu7740=
XM_017010608.1:c.25452G>A	XP_016866097.1:p.Leu8484=
XM_017010609.1:c.25452G>A	XP_016866098.1:p.Leu8484=
XM_017010610.1:c.25431G>A	XP_016866099.1:p.Leu8477=
XM_017010611.2:c.25425G>A	XP_016866100.1:p.Leu8475=
XM_017010612.1:c.25374G>A	XP_016866101.1:p.Leu8458=
XM_017010613.1:c.25380G>A	XP_016866102.1:p.Leu8460=
XM_017010614.1:c.25296G>A	XP_016866103.1:p.Leu8432=
XM_017010615.1:c.25227G>A	XP_016866104.1:p.Leu8409=
XM_017010616.1:c.25383G>A	XP_016866105.1:p.Leu8461=
XM_017010617.1:c.25380G>A	XP_016866106.1:p.Leu8460=
XM_017010618.1:c.25368G>A	XP_016866107.1:p.Leu8456=
XM_017010619.1:c.23727G>A	XP_016866108.1:p.Leu7909=
NM_182961.4:c.25347G>A MANE Select	NP_892006.3:p.Leu8449=
NM_001347701.2:c.1953G>A	NP_001334630.1:p.Leu651=
NM_001347702.2:c.1881G>A MANE Plus Clinical	NP_001334631.1:p.Leu627=
NM_033071.5:c.25203G>A	NP_149062.2:p.Leu8401=