Canonical Allele Identifier: CA4052904
Community Standard Title: NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152141255C>T , CM000668.2:g.152141255C>T GRCh38
NC_000006.11:g.152462390C>T , CM000668.1:g.152462390C>T GRCh37
NC_000006.10:g.152504083C>T NCBI36
NG_012855.1:g.501145G>A
NG_012855.2:g.501145G>A

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.25194G>A MANE Select NP_892006.3:p.Glu8398=
ENST00000367255.10:c.25194G>A MANE Select ENSP00000356224.5:p.Glu8398=
NM_001347702.2:c.1728G>A MANE Plus Clinical NP_001334631.1:p.Glu576=
ENST00000354674.5:c.1728G>A MANE Plus Clinical ENSP00000346701.4:p.Glu576=
NM_001347701.1:c.1800G>A NP_001334630.1:p.Glu600=
NM_001347701.2:c.1800G>A NP_001334630.1:p.Glu600=
NM_001347702.1:c.1728G>A NP_001334631.1:p.Glu576=
NM_033071.3:c.25050G>A NP_149062.1:p.Glu8350=
NM_033071.5:c.25050G>A NP_149062.2:p.Glu8350=
NM_182961.3:c.25194G>A NP_892006.3:p.Glu8398=
ENST00000341594.9:c.23979G>A ENSP00000341887.6:p.Glu7993=
ENST00000347037.9:n.1942G>A
ENST00000354674.4:c.1728G>A ENSP00000346701.4:p.Glu576=
ENST00000367251.7:c.4029G>A ENSP00000356220.3:p.Glu1343=
ENST00000367255.9:c.25194G>A ENSP00000356224.5:p.Glu8398=
ENST00000367256.9:n.8886G>A
ENST00000367257.8:c.3132G>A ENSP00000356226.4:p.Glu1044=
ENST00000409694.6:n.8778G>A
ENST00000423061.5:c.25050G>A ENSP00000396024.1:p.Glu8350=
ENST00000423061.6:c.25050G>A ENSP00000396024.1:p.Glu8350=
ENST00000460912.6:n.1808G>A
ENST00000478916.5:n.4216G>A
ENST00000536990.5:n.2031G>A
ENST00000539504.5:c.1659G>A ENSP00000441052.1:p.Glu553=
ENST00000672154.1:c.596G>A
ENST00000672169.1:c.929G>A
ENST00000673173.1:c.891-1094G>A
ENST00000673451.1:c.966G>A ENSP00000500189.1:p.Glu322=
XM_006715407.1:c.25299G>A XP_006715470.1:p.Glu8433=
XM_006715408.1:c.25287G>A XP_006715471.1:p.Glu8429=
XM_006715408.2:c.25287G>A XP_006715471.1:p.Glu8429=
XM_006715409.1:c.25278G>A XP_006715472.1:p.Glu8426=
XM_006715410.1:c.25299G>A XP_006715473.1:p.Glu8433=
XM_006715410.2:c.25299G>A XP_006715473.1:p.Glu8433=
XM_006715411.1:c.25248G>A XP_006715474.1:p.Glu8416=
XM_006715412.1:c.25284G>A XP_006715475.1:p.Glu8428=
XM_006715412.2:c.25284G>A XP_006715475.1:p.Glu8428=
XM_006715413.1:c.25230G>A XP_006715476.1:p.Glu8410=
XM_006715413.2:c.25230G>A XP_006715476.1:p.Glu8410=
XM_006715414.1:c.25227G>A XP_006715477.1:p.Glu8409=
XM_006715415.1:c.25230G>A XP_006715478.1:p.Glu8410=
XM_006715415.2:c.25230G>A XP_006715478.1:p.Glu8410=
XM_006715416.1:c.25215G>A XP_006715479.1:p.Glu8405=
XM_006715416.2:c.25215G>A XP_006715479.1:p.Glu8405=
XM_006715417.1:c.25158G>A XP_006715480.1:p.Glu8386=
XM_006715417.2:c.25158G>A XP_006715480.1:p.Glu8386=
XM_006715420.1:c.25146G>A XP_006715483.1:p.Glu8382=
XM_006715420.2:c.25146G>A XP_006715483.1:p.Glu8382=
XM_006715421.1:c.25143G>A XP_006715484.1:p.Glu8381=
XM_006715421.2:c.25143G>A XP_006715484.1:p.Glu8381=
XM_006715422.1:c.25140G>A XP_006715485.1:p.Glu8380=
XM_006715423.1:c.25299G>A XP_006715486.1:p.Glu8433=
XM_006715423.2:c.25299G>A XP_006715486.1:p.Glu8433=
XM_006715424.1:c.25299G>A XP_006715487.1:p.Glu8433=
XM_006715424.2:c.25299G>A XP_006715487.1:p.Glu8433=
XM_006715425.1:c.25230G>A XP_006715488.1:p.Glu8410=
XM_006715425.2:c.25230G>A XP_006715488.1:p.Glu8410=
XM_011535641.1:c.25296G>A XP_011533943.1:p.Glu8432=
XM_011535641.2:c.25296G>A XP_011533943.1:p.Glu8432=
XM_011535642.1:c.25284G>A XP_011533944.1:p.Glu8428=
XM_011535642.2:c.25284G>A XP_011533944.1:p.Glu8428=
XM_011535643.1:c.25134G>A XP_011533945.1:p.Glu8378=
XM_011535644.1:c.23574G>A XP_011533946.1:p.Glu7858=
XM_011535645.1:c.23067G>A XP_011533947.1:p.Glu7689=
XM_011535645.2:c.23067G>A XP_011533947.1:p.Glu7689=
XM_011535647.1:c.18534G>A XP_011533949.1:p.Glu6178=
XM_017010608.1:c.25299G>A XP_016866097.1:p.Glu8433=
XM_017010609.1:c.25299G>A XP_016866098.1:p.Glu8433=
XM_017010610.1:c.25278G>A XP_016866099.1:p.Glu8426=
XM_017010611.2:c.25272G>A XP_016866100.1:p.Glu8424=
XM_017010612.1:c.25221G>A XP_016866101.1:p.Glu8407=
XM_017010613.1:c.25227G>A XP_016866102.1:p.Glu8409=
XM_017010614.1:c.25143G>A XP_016866103.1:p.Glu8381=
XM_017010615.1:c.25074G>A XP_016866104.1:p.Glu8358=
XM_017010616.1:c.25230G>A XP_016866105.1:p.Glu8410=
XM_017010617.1:c.25227G>A XP_016866106.1:p.Glu8409=
XM_017010618.1:c.25215G>A XP_016866107.1:p.Glu8405=
XM_017010619.1:c.23574G>A XP_016866108.1:p.Glu7858=