Canonical Allele Identifier: CA4052728
Community Standard Title: NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152133461G>A , CM000668.2:g.152133461G>A GRCh38
NC_000006.11:g.152454596G>A , CM000668.1:g.152454596G>A GRCh37
NC_000006.10:g.152496289G>A NCBI36
NG_012855.1:g.508939C>T
NG_012855.2:g.508939C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.25816C>T MANE Select NP_892006.3:p.Gln8606Ter
ENST00000367255.10:c.25816C>T MANE Select ENSP00000356224.5:p.Gln8606Ter
NM_001347702.2:c.2350C>T MANE Plus Clinical NP_001334631.1:p.Gln784Ter
ENST00000354674.5:c.2350C>T MANE Plus Clinical ENSP00000346701.4:p.Gln784Ter
NM_001347701.1:c.2422C>T NP_001334630.1:p.Gln808Ter
NM_001347701.2:c.2422C>T NP_001334630.1:p.Gln808Ter
NM_001347702.1:c.2350C>T NP_001334631.1:p.Gln784Ter
NM_033071.3:c.25672C>T NP_149062.1:p.Gln8558Ter
NM_033071.5:c.25672C>T NP_149062.2:p.Gln8558Ter
NM_182961.3:c.25816C>T NP_892006.3:p.Gln8606Ter
ENST00000341594.9:c.24601C>T ENSP00000341887.6:p.Gln8201Ter
ENST00000347037.9:n.2564C>T
ENST00000354674.4:c.2350C>T ENSP00000346701.4:p.Gln784Ter
ENST00000367251.7:c.4651C>T ENSP00000356220.3:p.Gln1551Ter
ENST00000367255.9:c.25816C>T ENSP00000356224.5:p.Gln8606Ter
ENST00000367256.9:n.9508C>T
ENST00000367257.8:c.3754C>T ENSP00000356226.4:p.Gln1252Ter
ENST00000409694.6:n.9400C>T
ENST00000423061.5:c.25672C>T ENSP00000396024.1:p.Gln8558Ter
ENST00000423061.6:c.25672C>T ENSP00000396024.1:p.Gln8558Ter
ENST00000460912.6:n.2430C>T
ENST00000478916.5:n.6453C>T
ENST00000536990.5:n.2653C>T
ENST00000539504.5:c.2281C>T ENSP00000441052.1:p.Gln761Ter
ENST00000672154.1:c.1218C>T
ENST00000672169.1:c.1593C>T
ENST00000673173.1:c.1460C>T
ENST00000673451.1:c.1666C>T ENSP00000500189.1:n.1666C>T
XM_006715407.1:c.25963C>T XP_006715470.1:p.Gln8655Ter
XM_006715408.1:c.25951C>T XP_006715471.1:p.Gln8651Ter
XM_006715408.2:c.25951C>T XP_006715471.1:p.Gln8651Ter
XM_006715409.1:c.25942C>T XP_006715472.1:p.Gln8648Ter
XM_006715410.1:c.25921C>T XP_006715473.1:p.Gln8641Ter
XM_006715410.2:c.25921C>T XP_006715473.1:p.Gln8641Ter
XM_006715411.1:c.25912C>T XP_006715474.1:p.Gln8638Ter
XM_006715412.1:c.25906C>T XP_006715475.1:p.Gln8636Ter
XM_006715412.2:c.25906C>T XP_006715475.1:p.Gln8636Ter
XM_006715413.1:c.25894C>T XP_006715476.1:p.Gln8632Ter
XM_006715413.2:c.25894C>T XP_006715476.1:p.Gln8632Ter
XM_006715414.1:c.25891C>T XP_006715477.1:p.Gln8631Ter
XM_006715415.1:c.25852C>T XP_006715478.1:p.Gln8618Ter
XM_006715415.2:c.25852C>T XP_006715478.1:p.Gln8618Ter
XM_006715416.1:c.25837C>T XP_006715479.1:p.Gln8613Ter
XM_006715416.2:c.25837C>T XP_006715479.1:p.Gln8613Ter
XM_006715417.1:c.25822C>T XP_006715480.1:p.Gln8608Ter
XM_006715417.2:c.25822C>T XP_006715480.1:p.Gln8608Ter
XM_006715420.1:c.25810C>T XP_006715483.1:p.Gln8604Ter
XM_006715420.2:c.25810C>T XP_006715483.1:p.Gln8604Ter
XM_006715421.1:c.25807C>T XP_006715484.1:p.Gln8603Ter
XM_006715421.2:c.25807C>T XP_006715484.1:p.Gln8603Ter
XM_006715422.1:c.25804C>T XP_006715485.1:p.Gln8602Ter
XM_006715423.1:c.25963C>T XP_006715486.1:p.Gln8655Ter
XM_006715423.2:c.25963C>T XP_006715486.1:p.Gln8655Ter
XM_006715424.1:c.25921C>T XP_006715487.1:p.Gln8641Ter
XM_006715424.2:c.25921C>T XP_006715487.1:p.Gln8641Ter
XM_006715425.1:c.25852C>T XP_006715488.1:p.Gln8618Ter
XM_006715425.2:c.25852C>T XP_006715488.1:p.Gln8618Ter
XM_011535641.1:c.25960C>T XP_011533943.1:p.Gln8654Ter
XM_011535641.2:c.25960C>T XP_011533943.1:p.Gln8654Ter
XM_011535642.1:c.25948C>T XP_011533944.1:p.Gln8650Ter
XM_011535642.2:c.25948C>T XP_011533944.1:p.Gln8650Ter
XM_011535643.1:c.25798C>T XP_011533945.1:p.Gln8600Ter
XM_011535644.1:c.24238C>T XP_011533946.1:p.Gln8080Ter
XM_011535645.1:c.23731C>T XP_011533947.1:p.Gln7911Ter
XM_011535645.2:c.23731C>T XP_011533947.1:p.Gln7911Ter
XM_011535647.1:c.19198C>T XP_011533949.1:p.Gln6400Ter
XM_017010608.1:c.25963C>T XP_016866097.1:p.Gln8655Ter
XM_017010609.1:c.25963C>T XP_016866098.1:p.Gln8655Ter
XM_017010610.1:c.25942C>T XP_016866099.1:p.Gln8648Ter
XM_017010611.2:c.25936C>T XP_016866100.1:p.Gln8646Ter
XM_017010612.1:c.25885C>T XP_016866101.1:p.Gln8629Ter
XM_017010613.1:c.25849C>T XP_016866102.1:p.Gln8617Ter
XM_017010614.1:c.25807C>T XP_016866103.1:p.Gln8603Ter
XM_017010615.1:c.25696C>T XP_016866104.1:p.Gln8566Ter
XM_017010616.1:c.25894C>T XP_016866105.1:p.Gln8632Ter
XM_017010617.1:c.25849C>T XP_016866106.1:p.Gln8617Ter
XM_017010618.1:c.25837C>T XP_016866107.1:p.Gln8613Ter
XM_017010619.1:c.24238C>T XP_016866108.1:p.Gln8080Ter