Canonical Allele Identifier: CA370912871
Community Standard Title: NM_000553.6(WRN):c.2242C>T (p.Gln748Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31111768C>T , CM000670.2:g.31111768C>T GRCh38
NC_000008.10:g.30969284C>T , CM000670.1:g.30969284C>T GRCh37
NC_000008.9:g.31088826C>T NCBI36
NG_008870.1:g.83507C>T , LRG_524:g.83507C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2242C>T MANE Select NP_000544.2:p.Gln748Ter
ENST00000298139.7:c.2242C>T MANE Select ENSP00000298139.5:p.Gln748Ter
NM_000553.4:c.2242C>T , LRG_524t1:c.2242C>T NP_000544.2:p.Gln748Ter
NM_000553.5:c.2242C>T NP_000544.2:p.Gln748Ter
ENST00000298139.5:c.2242C>T ENSP00000298139.5:p.Gln748Ter
ENST00000521620.5:n.875C>T
ENST00000650667.1:c.*1856C>T ENSP00000498593.1:n.*1856C>T
XM_011544639.1:c.2161C>T XP_011542941.1:p.Gln721Ter
XM_011544639.3:c.2161C>T XP_011542941.1:p.Gln721Ter
XM_011544640.1:c.643C>T XP_011542942.1:p.Gln215Ter
XM_024447265.1:c.2032C>T XP_024303033.1:p.Gln678Ter
XR_949470.1:n.2515C>T
XR_949470.3:n.2543C>T
XR_949471.1:n.2515C>T
XR_949471.3:n.2543C>T
XR_949472.1:n.2515C>T
XR_949472.3:n.2543C>T