Canonical Allele Identifier: CA370923720
Community Standard Title: NM_000553.6(WRN):c.1372G>T (p.Glu458Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31085187G>T , CM000670.2:g.31085187G>T GRCh38
NC_000008.10:g.30942703G>T , CM000670.1:g.30942703G>T GRCh37
NC_000008.9:g.31062245G>T NCBI36
NG_008870.1:g.56926G>T , LRG_524:g.56926G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.1372G>T MANE Select NP_000544.2:p.Glu458Ter
ENST00000298139.7:c.1372G>T MANE Select ENSP00000298139.5:p.Glu458Ter
NM_000553.4:c.1372G>T , LRG_524t1:c.1372G>T NP_000544.2:p.Glu458Ter
NM_000553.5:c.1372G>T NP_000544.2:p.Glu458Ter
ENST00000298139.5:c.1372G>T ENSP00000298139.5:p.Glu458Ter
ENST00000650667.1:c.*986G>T ENSP00000498593.1:n.*986G>T
ENST00000651642.1:c.586G>T ENSP00000498779.1:p.Glu196Ter
XM_011544639.1:c.1350+1408G>T XP_011542941.1:n.1350+1408G>T
XM_011544639.3:c.1350+1408G>T XP_011542941.1:n.1350+1408G>T
XM_024447265.1:c.1162G>T XP_024303033.1:p.Glu388Ter
XR_949470.1:n.1645G>T
XR_949470.3:n.1673G>T
XR_949471.1:n.1645G>T
XR_949471.3:n.1673G>T
XR_949472.1:n.1645G>T
XR_949472.3:n.1673G>T