Canonical Allele Identifier: CA155431

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152148053C>G , CM000668.2:g.152148053C>G	GRCh38
NC_000006.11:g.152469188C>G , CM000668.1:g.152469188C>G	GRCh37
NC_000006.10:g.152510881C>G	NCBI36
NG_012855.1:g.494347G>C
NG_012855.2:g.494347G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1433G>C MANE Plus Clinical	ENSP00000346701.4:p.Gly478Ala
ENST00000367255.10:c.24968G>C MANE Select	ENSP00000356224.5:p.Gly8323Ala
ENST00000423061.6:c.24755G>C	ENSP00000396024.1:p.Gly8252Ala
ENST00000672154.1:c.370G>C
ENST00000672169.1:c.703G>C
ENST00000673173.1:c.882G>C
ENST00000673451.1:c.740G>C	ENSP00000500189.1:p.Gly247Ala
ENST00000341594.9:c.23753G>C	ENSP00000341887.6:p.Gly7918Ala
ENST00000347037.9:n.1647G>C
ENST00000354674.4:c.1433G>C	ENSP00000346701.4:p.Gly478Ala
ENST00000367251.7:c.3734G>C	ENSP00000356220.3:p.Gly1245Ala
ENST00000367255.9:c.24968G>C	ENSP00000356224.5:p.Gly8323Ala
ENST00000367256.9:n.8660G>C
ENST00000367257.8:c.2906G>C	ENSP00000356226.4:p.Gly969Ala
ENST00000409694.6:n.8552G>C
ENST00000423061.5:c.24755G>C	ENSP00000396024.1:p.Gly8252Ala
ENST00000460912.6:n.1513G>C
ENST00000472563.2:n.356G>C
ENST00000536990.5:n.1805G>C
ENST00000539504.5:c.1433G>C	ENSP00000441052.1:p.Gly478Ala
NM_033071.3:c.24755G>C	NP_149062.1:p.Gly8252Ala
NM_182961.3:c.24968G>C	NP_892006.3:p.Gly8323Ala
XM_006715407.1:c.25004G>C	XP_006715470.1:p.Gly8335Ala
XM_006715408.1:c.24992G>C	XP_006715471.1:p.Gly8331Ala
XM_006715409.1:c.24983G>C	XP_006715472.1:p.Gly8328Ala
XM_006715410.1:c.25004G>C	XP_006715473.1:p.Gly8335Ala
XM_006715411.1:c.24953G>C	XP_006715474.1:p.Gly8318Ala
XM_006715412.1:c.24989G>C	XP_006715475.1:p.Gly8330Ala
XM_006715413.1:c.25004G>C	XP_006715476.1:p.Gly8335Ala
XM_006715414.1:c.24932G>C	XP_006715477.1:p.Gly8311Ala
XM_006715415.1:c.25004G>C	XP_006715478.1:p.Gly8335Ala
XM_006715416.1:c.24989G>C	XP_006715479.1:p.Gly8330Ala
XM_006715417.1:c.24863G>C	XP_006715480.1:p.Gly8288Ala
XM_006715420.1:c.24851G>C	XP_006715483.1:p.Gly8284Ala
XM_006715421.1:c.24848G>C	XP_006715484.1:p.Gly8283Ala
XM_006715422.1:c.24845G>C	XP_006715485.1:p.Gly8282Ala
XM_006715423.1:c.25004G>C	XP_006715486.1:p.Gly8335Ala
XM_006715424.1:c.25004G>C	XP_006715487.1:p.Gly8335Ala
XM_006715425.1:c.25004G>C	XP_006715488.1:p.Gly8335Ala
XM_011535641.1:c.25001G>C	XP_011533943.1:p.Gly8334Ala
XM_011535642.1:c.24989G>C	XP_011533944.1:p.Gly8330Ala
XM_011535643.1:c.24839G>C	XP_011533945.1:p.Gly8280Ala
XM_011535644.1:c.23279G>C	XP_011533946.1:p.Gly7760Ala
XM_011535645.1:c.22772G>C	XP_011533947.1:p.Gly7591Ala
XM_011535647.1:c.18239G>C	XP_011533949.1:p.Gly6080Ala
NM_001347701.1:c.1574G>C	NP_001334630.1:p.Gly525Ala
NM_001347702.1:c.1433G>C	NP_001334631.1:p.Gly478Ala
XM_006715408.2:c.24992G>C	XP_006715471.1:p.Gly8331Ala
XM_006715410.2:c.25004G>C	XP_006715473.1:p.Gly8335Ala
XM_006715412.2:c.24989G>C	XP_006715475.1:p.Gly8330Ala
XM_006715413.2:c.25004G>C	XP_006715476.1:p.Gly8335Ala
XM_006715415.2:c.25004G>C	XP_006715478.1:p.Gly8335Ala
XM_006715416.2:c.24989G>C	XP_006715479.1:p.Gly8330Ala
XM_006715417.2:c.24863G>C	XP_006715480.1:p.Gly8288Ala
XM_006715420.2:c.24851G>C	XP_006715483.1:p.Gly8284Ala
XM_006715421.2:c.24848G>C	XP_006715484.1:p.Gly8283Ala
XM_006715423.2:c.25004G>C	XP_006715486.1:p.Gly8335Ala
XM_006715424.2:c.25004G>C	XP_006715487.1:p.Gly8335Ala
XM_006715425.2:c.25004G>C	XP_006715488.1:p.Gly8335Ala
XM_011535641.2:c.25001G>C	XP_011533943.1:p.Gly8334Ala
XM_011535642.2:c.24989G>C	XP_011533944.1:p.Gly8330Ala
XM_011535645.2:c.22772G>C	XP_011533947.1:p.Gly7591Ala
XM_017010608.1:c.25004G>C	XP_016866097.1:p.Gly8335Ala
XM_017010609.1:c.25004G>C	XP_016866098.1:p.Gly8335Ala
XM_017010610.1:c.24983G>C	XP_016866099.1:p.Gly8328Ala
XM_017010611.2:c.24977G>C	XP_016866100.1:p.Gly8326Ala
XM_017010612.1:c.24926G>C	XP_016866101.1:p.Gly8309Ala
XM_017010613.1:c.25001G>C	XP_016866102.1:p.Gly8334Ala
XM_017010614.1:c.24848G>C	XP_016866103.1:p.Gly8283Ala
XM_017010615.1:c.24848G>C	XP_016866104.1:p.Gly8283Ala
XM_017010616.1:c.25004G>C	XP_016866105.1:p.Gly8335Ala
XM_017010617.1:c.25001G>C	XP_016866106.1:p.Gly8334Ala
XM_017010618.1:c.24989G>C	XP_016866107.1:p.Gly8330Ala
XM_017010619.1:c.23279G>C	XP_016866108.1:p.Gly7760Ala
NM_182961.4:c.24968G>C MANE Select	NP_892006.3:p.Gly8323Ala
NM_001347701.2:c.1574G>C	NP_001334630.1:p.Gly525Ala
NM_001347702.2:c.1433G>C MANE Plus Clinical	NP_001334631.1:p.Gly478Ala
NM_033071.5:c.24755G>C	NP_149062.2:p.Gly8252Ala