Canonical Allele Identifier: CA162761

Gene: WRN

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31157423C>A , CM000670.2:g.31157423C>A	GRCh38
NC_000008.10:g.31014939C>A , CM000670.1:g.31014939C>A	GRCh37
NC_000008.9:g.31134481C>A	NCBI36
NG_008870.1:g.129162C>A , LRG_524:g.129162C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3875C>A MANE Select	ENSP00000298139.5:p.Ser1292Tyr
ENST00000650667.1:c.*3489C>A	ENSP00000498593.1:n.*3489C>A
ENST00000298139.5:c.3875C>A	ENSP00000298139.5:p.Ser1292Tyr
ENST00000521620.5:n.2508C>A
NM_000553.4:c.3875C>A , LRG_524t1:c.3875C>A	NP_000544.2:p.Ser1292Tyr
XM_011544639.1:c.3794C>A	XP_011542941.1:p.Ser1265Tyr
XM_011544640.1:c.2276C>A	XP_011542942.1:p.Ser759Tyr
XR_949470.1:n.4148C>A
XR_949471.1:n.4148C>A
XR_949472.1:n.4148C>A
XR_949643.1:n.457-8758G>T
XR_949644.1:n.381-8758G>T
XR_949647.1:n.1070-8758G>T
XR_949648.1:n.972-8758G>T
NM_000553.5:c.3875C>A	NP_000544.2:p.Ser1292Tyr
XM_011544639.3:c.3794C>A	XP_011542941.1:p.Ser1265Tyr
XM_024447265.1:c.3665C>A	XP_024303033.1:p.Ser1222Tyr
XR_949470.3:n.4176C>A
XR_949471.3:n.4176C>A
XR_949472.3:n.4176C>A
NM_000553.6:c.3875C>A MANE Select	NP_000544.2:p.Ser1292Tyr