Canonical Allele Identifier: CA4053751
Community Standard Title: NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152206264G>A , CM000668.2:g.152206264G>A GRCh38
NC_000006.11:g.152527399G>A , CM000668.1:g.152527399G>A GRCh37
NC_000006.10:g.152569092G>A NCBI36
NG_012855.1:g.436136C>T
NG_012855.2:g.436136C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.22923C>T MANE Select NP_892006.3:p.Ala7641=
ENST00000367255.10:c.22923C>T MANE Select ENSP00000356224.5:p.Ala7641=
NM_033071.3:c.22710C>T NP_149062.1:p.Ala7570=
NM_033071.5:c.22710C>T NP_149062.2:p.Ala7570=
NM_182961.3:c.22923C>T NP_892006.3:p.Ala7641=
ENST00000341594.9:c.21708C>T ENSP00000341887.6:p.Ala7236=
ENST00000367251.7:c.1689C>T ENSP00000356220.3:p.Ala563=
ENST00000367255.9:c.22923C>T ENSP00000356224.5:p.Ala7641=
ENST00000367256.9:n.6615C>T
ENST00000367257.8:c.861C>T ENSP00000356226.4:p.Ala287=
ENST00000409694.6:n.6507C>T
ENST00000423061.5:c.22710C>T ENSP00000396024.1:p.Ala7570=
ENST00000423061.6:c.22710C>T ENSP00000396024.1:p.Ala7570=
XM_006715407.1:c.22959C>T XP_006715470.1:p.Ala7653=
XM_006715408.1:c.22947C>T XP_006715471.1:p.Ala7649=
XM_006715408.2:c.22947C>T XP_006715471.1:p.Ala7649=
XM_006715409.1:c.22938C>T XP_006715472.1:p.Ala7646=
XM_006715410.1:c.22959C>T XP_006715473.1:p.Ala7653=
XM_006715410.2:c.22959C>T XP_006715473.1:p.Ala7653=
XM_006715411.1:c.22908C>T XP_006715474.1:p.Ala7636=
XM_006715412.1:c.22944C>T XP_006715475.1:p.Ala7648=
XM_006715412.2:c.22944C>T XP_006715475.1:p.Ala7648=
XM_006715413.1:c.22959C>T XP_006715476.1:p.Ala7653=
XM_006715413.2:c.22959C>T XP_006715476.1:p.Ala7653=
XM_006715414.1:c.22887C>T XP_006715477.1:p.Ala7629=
XM_006715415.1:c.22959C>T XP_006715478.1:p.Ala7653=
XM_006715415.2:c.22959C>T XP_006715478.1:p.Ala7653=
XM_006715416.1:c.22944C>T XP_006715479.1:p.Ala7648=
XM_006715416.2:c.22944C>T XP_006715479.1:p.Ala7648=
XM_006715417.1:c.22818C>T XP_006715480.1:p.Ala7606=
XM_006715417.2:c.22818C>T XP_006715480.1:p.Ala7606=
XM_006715420.1:c.22806C>T XP_006715483.1:p.Ala7602=
XM_006715420.2:c.22806C>T XP_006715483.1:p.Ala7602=
XM_006715421.1:c.22803C>T XP_006715484.1:p.Ala7601=
XM_006715421.2:c.22803C>T XP_006715484.1:p.Ala7601=
XM_006715422.1:c.22800C>T XP_006715485.1:p.Ala7600=
XM_006715423.1:c.22959C>T XP_006715486.1:p.Ala7653=
XM_006715423.2:c.22959C>T XP_006715486.1:p.Ala7653=
XM_006715424.1:c.22959C>T XP_006715487.1:p.Ala7653=
XM_006715424.2:c.22959C>T XP_006715487.1:p.Ala7653=
XM_006715425.1:c.22959C>T XP_006715488.1:p.Ala7653=
XM_006715425.2:c.22959C>T XP_006715488.1:p.Ala7653=
XM_011535641.1:c.22956C>T XP_011533943.1:p.Ala7652=
XM_011535641.2:c.22956C>T XP_011533943.1:p.Ala7652=
XM_011535642.1:c.22944C>T XP_011533944.1:p.Ala7648=
XM_011535642.2:c.22944C>T XP_011533944.1:p.Ala7648=
XM_011535643.1:c.22794C>T XP_011533945.1:p.Ala7598=
XM_011535644.1:c.21234C>T XP_011533946.1:p.Ala7078=
XM_011535645.1:c.20727C>T XP_011533947.1:p.Ala6909=
XM_011535645.2:c.20727C>T XP_011533947.1:p.Ala6909=
XM_011535647.1:c.16194C>T XP_011533949.1:p.Ala5398=
XM_017010608.1:c.22959C>T XP_016866097.1:p.Ala7653=
XM_017010609.1:c.22959C>T XP_016866098.1:p.Ala7653=
XM_017010610.1:c.22938C>T XP_016866099.1:p.Ala7646=
XM_017010611.2:c.22932C>T XP_016866100.1:p.Ala7644=
XM_017010612.1:c.22881C>T XP_016866101.1:p.Ala7627=
XM_017010613.1:c.22956C>T XP_016866102.1:p.Ala7652=
XM_017010614.1:c.22803C>T XP_016866103.1:p.Ala7601=
XM_017010615.1:c.22803C>T XP_016866104.1:p.Ala7601=
XM_017010616.1:c.22959C>T XP_016866105.1:p.Ala7653=
XM_017010617.1:c.22956C>T XP_016866106.1:p.Ala7652=
XM_017010618.1:c.22944C>T XP_016866107.1:p.Ala7648=
XM_017010619.1:c.21234C>T XP_016866108.1:p.Ala7078=