Canonical Allele Identifier: CA370928876

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.31012157T>A (hg19) ; chr8:g.31154641T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31154641T>A , CM000670.2:g.31154641T>A	GRCh38
NC_000008.10:g.31012157T>A , CM000670.1:g.31012157T>A	GRCh37
NC_000008.9:g.31131699T>A	NCBI36
NG_008870.1:g.126380T>A , LRG_524:g.126380T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3705T>A MANE Select	ENSP00000298139.5:p.Ser1235Arg
ENST00000650667.1:c.*3319T>A	ENSP00000498593.1:n.*3319T>A
ENST00000298139.5:c.3705T>A	ENSP00000298139.5:p.Ser1235Arg
ENST00000521620.5:n.2338T>A
NM_000553.4:c.3705T>A , LRG_524t1:c.3705T>A	NP_000544.2:p.Ser1235Arg
XM_011544639.1:c.3624T>A	XP_011542941.1:p.Ser1208Arg
XM_011544640.1:c.2106T>A	XP_011542942.1:p.Ser702Arg
XR_949470.1:n.3978T>A
XR_949471.1:n.3978T>A
XR_949472.1:n.3978T>A
XR_949643.1:n.457-5976A>T
XR_949644.1:n.381-5976A>T
XR_949647.1:n.1070-5976A>T
XR_949648.1:n.972-5976A>T
NM_000553.5:c.3705T>A	NP_000544.2:p.Ser1235Arg
XM_011544639.3:c.3624T>A	XP_011542941.1:p.Ser1208Arg
XM_024447265.1:c.3495T>A	XP_024303033.1:p.Ser1165Arg
XR_949470.3:n.4006T>A
XR_949471.3:n.4006T>A
XR_949472.3:n.4006T>A
NM_000553.6:c.3705T>A MANE Select	NP_000544.2:p.Ser1235Arg