Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961095C>T , CM000672.2:g.87961095C>T	GRCh38
NC_000010.10:g.89720852C>T , CM000672.1:g.89720852C>T	GRCh37
NC_000010.9:g.89710832C>T	NCBI36
NG_007466.2:g.102657C>T , LRG_311:g.102657C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1096C>T	ENSP00000514759.2:p.Arg366Ter
ENST00000710265.1:c.1003C>T	ENSP00000518161.1:p.Arg335Ter
ENST00000472832.3:c.1003C>T	ENSP00000483066.2:p.Arg335Ter
ENST00000688158.2:n.1738C>T
ENST00000688922.2:c.*833C>T	ENSP00000508742.2:n.*833C>T
ENST00000700021.1:c.958C>T	ENSP00000514757.1:p.Arg320Ter
ENST00000700022.1:c.*342C>T	ENSP00000514758.1:n.*342C>T
ENST00000700023.1:n.2161C>T
ENST00000700024.1:n.2395C>T
ENST00000700025.1:n.1772C>T
ENST00000700026.1:n.640C>T
ENST00000706954.1:c.1003C>T	ENSP00000516674.1:p.Arg335Ter
ENST00000706955.1:c.*1038C>T	ENSP00000516675.1:n.*1038C>T
ENST00000686459.1:c.*589C>T	ENSP00000508909.1:n.*589C>T
ENST00000688158.1:c.*1114C>T	ENSP00000509254.1:n.*1114C>T
ENST00000688308.1:c.1003C>T	ENSP00000508752.1:p.Arg335Ter
ENST00000688922.1:c.924C>T
ENST00000693560.1:c.1522C>T	ENSP00000509861.1:p.Arg508Ter
ENST00000371953.8:c.1003C>T MANE Select	ENSP00000361021.3:p.Arg335Ter
ENST00000371953.7:c.1003C>T	ENSP00000361021.3:p.Arg335Ter
ENST00000472832.2:c.430C>T	ENSP00000483066.1:p.Arg144Ter
NM_000314.5:c.1003C>T	NP_000305.3:p.Arg335Ter
NM_000314.6:c.1003C>T	NP_000305.3:p.Arg335Ter
NM_001304717.2:c.1522C>T	NP_001291646.2:p.Arg508Ter
NM_001304718.1:c.412C>T	NP_001291647.1:p.Arg138Ter
XM_006717926.2:c.958C>T	XP_006717989.1:p.Arg320Ter
XM_011539981.1:c.1003C>T	XP_011538283.1:p.Arg335Ter
XM_011539982.1:c.907C>T	XP_011538284.1:p.Arg303Ter
XR_945791.1:n.1573C>T
NM_000314.7:c.1003C>T	NP_000305.3:p.Arg335Ter
NM_001304717.5:c.1522C>T	NP_001291646.4:p.Arg508Ter
NM_001304718.2:c.412C>T	NP_001291647.1:p.Arg138Ter
NM_000314.8:c.1003C>T MANE Select	NP_000305.3:p.Arg335Ter

Linked Data

Genomic Alleles

Transcript Alleles