Canonical Allele Identifier: CA4054396

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152233937T>C , CM000668.2:g.152233937T>C	GRCh38
NC_000006.11:g.152555072T>C , CM000668.1:g.152555072T>C	GRCh37
NC_000006.10:g.152596765T>C	NCBI36
NG_012855.1:g.408463A>G
NG_012855.2:g.408463A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.20556A>G MANE Select	NP_892006.3:p.Gln6852=
ENST00000367255.10:c.20556A>G MANE Select	ENSP00000356224.5:p.Gln6852=
NM_033071.3:c.20343A>G	NP_149062.1:p.Gln6781=
NM_033071.5:c.20343A>G	NP_149062.2:p.Gln6781=
NM_182961.3:c.20556A>G	NP_892006.3:p.Gln6852=
ENST00000341594.9:c.19341A>G	ENSP00000341887.6:p.Gln6447=
ENST00000367255.9:c.20556A>G	ENSP00000356224.5:p.Gln6852=
ENST00000367256.9:n.4248A>G
ENST00000409694.6:n.4140A>G
ENST00000423061.5:c.20343A>G	ENSP00000396024.1:p.Gln6781=
ENST00000423061.6:c.20343A>G	ENSP00000396024.1:p.Gln6781=
XM_006715407.1:c.20592A>G	XP_006715470.1:p.Gln6864=
XM_006715408.1:c.20580A>G	XP_006715471.1:p.Gln6860=
XM_006715408.2:c.20580A>G	XP_006715471.1:p.Gln6860=
XM_006715409.1:c.20571A>G	XP_006715472.1:p.Gln6857=
XM_006715410.1:c.20592A>G	XP_006715473.1:p.Gln6864=
XM_006715410.2:c.20592A>G	XP_006715473.1:p.Gln6864=
XM_006715411.1:c.20541A>G	XP_006715474.1:p.Gln6847=
XM_006715412.1:c.20577A>G	XP_006715475.1:p.Gln6859=
XM_006715412.2:c.20577A>G	XP_006715475.1:p.Gln6859=
XM_006715413.1:c.20592A>G	XP_006715476.1:p.Gln6864=
XM_006715413.2:c.20592A>G	XP_006715476.1:p.Gln6864=
XM_006715414.1:c.20520A>G	XP_006715477.1:p.Gln6840=
XM_006715415.1:c.20592A>G	XP_006715478.1:p.Gln6864=
XM_006715415.2:c.20592A>G	XP_006715478.1:p.Gln6864=
XM_006715416.1:c.20577A>G	XP_006715479.1:p.Gln6859=
XM_006715416.2:c.20577A>G	XP_006715479.1:p.Gln6859=
XM_006715417.1:c.20451A>G	XP_006715480.1:p.Gln6817=
XM_006715417.2:c.20451A>G	XP_006715480.1:p.Gln6817=
XM_006715420.1:c.20439A>G	XP_006715483.1:p.Gln6813=
XM_006715420.2:c.20439A>G	XP_006715483.1:p.Gln6813=
XM_006715421.1:c.20436A>G	XP_006715484.1:p.Gln6812=
XM_006715421.2:c.20436A>G	XP_006715484.1:p.Gln6812=
XM_006715422.1:c.20433A>G	XP_006715485.1:p.Gln6811=
XM_006715423.1:c.20592A>G	XP_006715486.1:p.Gln6864=
XM_006715423.2:c.20592A>G	XP_006715486.1:p.Gln6864=
XM_006715424.1:c.20592A>G	XP_006715487.1:p.Gln6864=
XM_006715424.2:c.20592A>G	XP_006715487.1:p.Gln6864=
XM_006715425.1:c.20592A>G	XP_006715488.1:p.Gln6864=
XM_006715425.2:c.20592A>G	XP_006715488.1:p.Gln6864=
XM_011535641.1:c.20589A>G	XP_011533943.1:p.Gln6863=
XM_011535641.2:c.20589A>G	XP_011533943.1:p.Gln6863=
XM_011535642.1:c.20577A>G	XP_011533944.1:p.Gln6859=
XM_011535642.2:c.20577A>G	XP_011533944.1:p.Gln6859=
XM_011535643.1:c.20427A>G	XP_011533945.1:p.Gln6809=
XM_011535644.1:c.18867A>G	XP_011533946.1:p.Gln6289=
XM_011535645.1:c.18360A>G	XP_011533947.1:p.Gln6120=
XM_011535645.2:c.18360A>G	XP_011533947.1:p.Gln6120=
XM_011535647.1:c.13827A>G	XP_011533949.1:p.Gln4609=
XM_017010608.1:c.20592A>G	XP_016866097.1:p.Gln6864=
XM_017010609.1:c.20592A>G	XP_016866098.1:p.Gln6864=
XM_017010610.1:c.20571A>G	XP_016866099.1:p.Gln6857=
XM_017010611.2:c.20565A>G	XP_016866100.1:p.Gln6855=
XM_017010612.1:c.20514A>G	XP_016866101.1:p.Gln6838=
XM_017010613.1:c.20589A>G	XP_016866102.1:p.Gln6863=
XM_017010614.1:c.20436A>G	XP_016866103.1:p.Gln6812=
XM_017010615.1:c.20436A>G	XP_016866104.1:p.Gln6812=
XM_017010616.1:c.20592A>G	XP_016866105.1:p.Gln6864=
XM_017010617.1:c.20589A>G	XP_016866106.1:p.Gln6863=
XM_017010618.1:c.20577A>G	XP_016866107.1:p.Gln6859=
XM_017010619.1:c.18867A>G	XP_016866108.1:p.Gln6289=