Canonical Allele Identifier: CA366081070

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461296C>G (hg19) ; chr6:g.152140161C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140161C>G , CM000668.2:g.152140161C>G	GRCh38
NC_000006.11:g.152461296C>G , CM000668.1:g.152461296C>G	GRCh37
NC_000006.10:g.152502989C>G	NCBI36
NG_012855.1:g.502239G>C
NG_012855.2:g.502239G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1781G>C MANE Plus Clinical	ENSP00000346701.4:p.Gly594Ala
ENST00000367255.10:c.25247G>C MANE Select	ENSP00000356224.5:p.Gly8416Ala
ENST00000423061.6:c.25103G>C	ENSP00000396024.1:p.Gly8368Ala
ENST00000672154.1:c.649G>C
ENST00000672169.1:c.982G>C
ENST00000673173.1:c.891G>C
ENST00000673451.1:c.1019G>C	ENSP00000500189.1:p.Gly340Ala
ENST00000341594.9:c.24032G>C	ENSP00000341887.6:p.Gly8011Ala
ENST00000347037.9:n.1995G>C
ENST00000354674.4:c.1781G>C	ENSP00000346701.4:p.Gly594Ala
ENST00000367251.7:c.4082G>C	ENSP00000356220.3:p.Gly1361Ala
ENST00000367255.9:c.25247G>C	ENSP00000356224.5:p.Gly8416Ala
ENST00000367256.9:n.8939G>C
ENST00000367257.8:c.3185G>C	ENSP00000356226.4:p.Gly1062Ala
ENST00000409694.6:n.8831G>C
ENST00000423061.5:c.25103G>C	ENSP00000396024.1:p.Gly8368Ala
ENST00000460912.6:n.1861G>C
ENST00000478916.5:n.4269G>C
ENST00000536990.5:n.2084G>C
ENST00000539504.5:c.1712G>C	ENSP00000441052.1:p.Gly571Ala
NM_033071.3:c.25103G>C	NP_149062.1:p.Gly8368Ala
NM_182961.3:c.25247G>C	NP_892006.3:p.Gly8416Ala
XM_006715407.1:c.25352G>C	XP_006715470.1:p.Gly8451Ala
XM_006715408.1:c.25340G>C	XP_006715471.1:p.Gly8447Ala
XM_006715409.1:c.25331G>C	XP_006715472.1:p.Gly8444Ala
XM_006715410.1:c.25352G>C	XP_006715473.1:p.Gly8451Ala
XM_006715411.1:c.25301G>C	XP_006715474.1:p.Gly8434Ala
XM_006715412.1:c.25337G>C	XP_006715475.1:p.Gly8446Ala
XM_006715413.1:c.25283G>C	XP_006715476.1:p.Gly8428Ala
XM_006715414.1:c.25280G>C	XP_006715477.1:p.Gly8427Ala
XM_006715415.1:c.25283G>C	XP_006715478.1:p.Gly8428Ala
XM_006715416.1:c.25268G>C	XP_006715479.1:p.Gly8423Ala
XM_006715417.1:c.25211G>C	XP_006715480.1:p.Gly8404Ala
XM_006715420.1:c.25199G>C	XP_006715483.1:p.Gly8400Ala
XM_006715421.1:c.25196G>C	XP_006715484.1:p.Gly8399Ala
XM_006715422.1:c.25193G>C	XP_006715485.1:p.Gly8398Ala
XM_006715423.1:c.25352G>C	XP_006715486.1:p.Gly8451Ala
XM_006715424.1:c.25352G>C	XP_006715487.1:p.Gly8451Ala
XM_006715425.1:c.25283G>C	XP_006715488.1:p.Gly8428Ala
XM_011535641.1:c.25349G>C	XP_011533943.1:p.Gly8450Ala
XM_011535642.1:c.25337G>C	XP_011533944.1:p.Gly8446Ala
XM_011535643.1:c.25187G>C	XP_011533945.1:p.Gly8396Ala
XM_011535644.1:c.23627G>C	XP_011533946.1:p.Gly7876Ala
XM_011535645.1:c.23120G>C	XP_011533947.1:p.Gly7707Ala
XM_011535647.1:c.18587G>C	XP_011533949.1:p.Gly6196Ala
NM_001347701.1:c.1853G>C	NP_001334630.1:p.Gly618Ala
NM_001347702.1:c.1781G>C	NP_001334631.1:p.Gly594Ala
XM_006715408.2:c.25340G>C	XP_006715471.1:p.Gly8447Ala
XM_006715410.2:c.25352G>C	XP_006715473.1:p.Gly8451Ala
XM_006715412.2:c.25337G>C	XP_006715475.1:p.Gly8446Ala
XM_006715413.2:c.25283G>C	XP_006715476.1:p.Gly8428Ala
XM_006715415.2:c.25283G>C	XP_006715478.1:p.Gly8428Ala
XM_006715416.2:c.25268G>C	XP_006715479.1:p.Gly8423Ala
XM_006715417.2:c.25211G>C	XP_006715480.1:p.Gly8404Ala
XM_006715420.2:c.25199G>C	XP_006715483.1:p.Gly8400Ala
XM_006715421.2:c.25196G>C	XP_006715484.1:p.Gly8399Ala
XM_006715423.2:c.25352G>C	XP_006715486.1:p.Gly8451Ala
XM_006715424.2:c.25352G>C	XP_006715487.1:p.Gly8451Ala
XM_006715425.2:c.25283G>C	XP_006715488.1:p.Gly8428Ala
XM_011535641.2:c.25349G>C	XP_011533943.1:p.Gly8450Ala
XM_011535642.2:c.25337G>C	XP_011533944.1:p.Gly8446Ala
XM_011535645.2:c.23120G>C	XP_011533947.1:p.Gly7707Ala
XM_017010608.1:c.25352G>C	XP_016866097.1:p.Gly8451Ala
XM_017010609.1:c.25352G>C	XP_016866098.1:p.Gly8451Ala
XM_017010610.1:c.25331G>C	XP_016866099.1:p.Gly8444Ala
XM_017010611.2:c.25325G>C	XP_016866100.1:p.Gly8442Ala
XM_017010612.1:c.25274G>C	XP_016866101.1:p.Gly8425Ala
XM_017010613.1:c.25280G>C	XP_016866102.1:p.Gly8427Ala
XM_017010614.1:c.25196G>C	XP_016866103.1:p.Gly8399Ala
XM_017010615.1:c.25127G>C	XP_016866104.1:p.Gly8376Ala
XM_017010616.1:c.25283G>C	XP_016866105.1:p.Gly8428Ala
XM_017010617.1:c.25280G>C	XP_016866106.1:p.Gly8427Ala
XM_017010618.1:c.25268G>C	XP_016866107.1:p.Gly8423Ala
XM_017010619.1:c.23627G>C	XP_016866108.1:p.Gly7876Ala
NM_182961.4:c.25247G>C MANE Select	NP_892006.3:p.Gly8416Ala
NM_001347701.2:c.1853G>C	NP_001334630.1:p.Gly618Ala
NM_001347702.2:c.1781G>C MANE Plus Clinical	NP_001334631.1:p.Gly594Ala
NM_033071.5:c.25103G>C	NP_149062.2:p.Gly8368Ala