Canonical Allele Identifier: CA370909658
Community Standard Title: NM_000553.6(WRN):c.4117A>T (p.Arg1373Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31167156A>T , CM000670.2:g.31167156A>T GRCh38
NC_000008.10:g.31024672A>T , CM000670.1:g.31024672A>T GRCh37
NC_000008.9:g.31144214A>T NCBI36
NG_008870.1:g.138895A>T , LRG_524:g.138895A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.4117A>T MANE Select NP_000544.2:p.Arg1373Ter
ENST00000298139.7:c.4117A>T MANE Select ENSP00000298139.5:p.Arg1373Ter
NM_000553.4:c.4117A>T , LRG_524t1:c.4117A>T NP_000544.2:p.Arg1373Ter
NM_000553.5:c.4117A>T NP_000544.2:p.Arg1373Ter
ENST00000298139.5:c.4117A>T ENSP00000298139.5:p.Arg1373Ter
ENST00000521620.5:n.2750A>T
ENST00000650667.1:c.*3731A>T ENSP00000498593.1:n.*3731A>T
ENST00000651946.1:n.341A>T
XM_011544639.1:c.4036A>T XP_011542941.1:p.Arg1346Ter
XM_011544639.3:c.4036A>T XP_011542941.1:p.Arg1346Ter
XM_011544640.1:c.2518A>T XP_011542942.1:p.Arg840Ter
XM_024447265.1:c.3907A>T XP_024303033.1:p.Arg1303Ter
XR_949643.1:n.302T>A
XR_949644.1:n.302T>A
XR_949645.1:n.302T>A
XR_949646.1:n.302T>A
XR_949647.1:n.915T>A
XR_949648.1:n.817T>A