Canonical Allele Identifier: CA460224003
Community Standard Title: NM_000553.6(WRN):c.3483A>T (p.Val1161=)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147387A>T , CM000670.2:g.31147387A>T GRCh38
NC_000008.10:g.31004903A>T , CM000670.1:g.31004903A>T GRCh37
NC_000008.9:g.31124445A>T NCBI36
NG_008870.1:g.119126A>T , LRG_524:g.119126A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.3483A>T MANE Select NP_000544.2:p.Val1161=
ENST00000298139.7:c.3483A>T MANE Select ENSP00000298139.5:p.Val1161=
NM_000553.4:c.3483A>T , LRG_524t1:c.3483A>T NP_000544.2:p.Val1161=
NM_000553.5:c.3483A>T NP_000544.2:p.Val1161=
ENST00000298139.5:c.3483A>T ENSP00000298139.5:p.Val1161=
ENST00000521620.5:n.2116A>T
ENST00000650667.1:c.*3097A>T ENSP00000498593.1:n.*3097A>T
XM_011544639.1:c.3402A>T XP_011542941.1:p.Val1134=
XM_011544639.3:c.3402A>T XP_011542941.1:p.Val1134=
XM_011544640.1:c.1884A>T XP_011542942.1:p.Val628=
XM_024447265.1:c.3273A>T XP_024303033.1:p.Val1091=
XR_949470.1:n.3756A>T
XR_949470.3:n.3784A>T
XR_949471.1:n.3756A>T
XR_949471.3:n.3784A>T
XR_949472.1:n.3756A>T
XR_949472.3:n.3784A>T
XR_949643.1:n.614+1121T>A