Canonical Allele Identifier: CA370929661
Community Standard Title: NM_000553.6(WRN):c.3961C>T (p.Arg1321Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31157509C>T , CM000670.2:g.31157509C>T GRCh38
NC_000008.10:g.31015025C>T , CM000670.1:g.31015025C>T GRCh37
NC_000008.9:g.31134567C>T NCBI36
NG_008870.1:g.129248C>T , LRG_524:g.129248C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.3961C>T MANE Select NP_000544.2:p.Arg1321Ter
ENST00000298139.7:c.3961C>T MANE Select ENSP00000298139.5:p.Arg1321Ter
NM_000553.4:c.3961C>T , LRG_524t1:c.3961C>T NP_000544.2:p.Arg1321Ter
NM_000553.5:c.3961C>T NP_000544.2:p.Arg1321Ter
ENST00000298139.5:c.3961C>T ENSP00000298139.5:p.Arg1321Ter
ENST00000521620.5:n.2594C>T
ENST00000650667.1:c.*3575C>T ENSP00000498593.1:n.*3575C>T
XM_011544639.1:c.3880C>T XP_011542941.1:p.Arg1294Ter
XM_011544639.3:c.3880C>T XP_011542941.1:p.Arg1294Ter
XM_011544640.1:c.2362C>T XP_011542942.1:p.Arg788Ter
XM_024447265.1:c.3751C>T XP_024303033.1:p.Arg1251Ter
XR_949470.1:n.4234C>T
XR_949470.3:n.4262C>T
XR_949471.1:n.4234C>T
XR_949471.3:n.4262C>T
XR_949472.1:n.4234C>T
XR_949472.3:n.4262C>T
XR_949643.1:n.457-8844G>A
XR_949644.1:n.381-8844G>A
XR_949647.1:n.1070-8844G>A
XR_949648.1:n.972-8844G>A