Canonical Allele Identifier: CA370916443

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30924696T>G (hg19) ; chr8:g.31067180T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067180T>G , CM000670.2:g.31067180T>G	GRCh38
NC_000008.10:g.30924696T>G , CM000670.1:g.30924696T>G	GRCh37
NC_000008.9:g.31044238T>G	NCBI36
NG_008870.1:g.38919T>G , LRG_524:g.38919T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.652T>G MANE Select	ENSP00000298139.5:p.Tyr218Asp
ENST00000650667.1:c.*266T>G	ENSP00000498593.1:n.*266T>G
ENST00000298139.5:c.652T>G	ENSP00000298139.5:p.Tyr218Asp
NM_000553.4:c.652T>G , LRG_524t1:c.652T>G	NP_000544.2:p.Tyr218Asp
XM_011544639.1:c.652T>G	XP_011542941.1:p.Tyr218Asp
XR_949470.1:n.925T>G
XR_949471.1:n.925T>G
XR_949472.1:n.925T>G
NM_000553.5:c.652T>G	NP_000544.2:p.Tyr218Asp
XM_011544639.3:c.652T>G	XP_011542941.1:p.Tyr218Asp
XM_024447265.1:c.442T>G	XP_024303033.1:p.Tyr148Asp
XR_949470.3:n.953T>G
XR_949471.3:n.953T>G
XR_949472.3:n.953T>G
NM_000553.6:c.652T>G MANE Select	NP_000544.2:p.Tyr218Asp