Canonical Allele Identifier: CA370919680

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30938411G>A (hg19) ; chr8:g.31080895G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31080895G>A , CM000670.2:g.31080895G>A	GRCh38
NC_000008.10:g.30938411G>A , CM000670.1:g.30938411G>A	GRCh37
NC_000008.9:g.31057953G>A	NCBI36
NG_008870.1:g.52634G>A , LRG_524:g.52634G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.868G>A MANE Select	ENSP00000298139.5:p.Glu290Lys
ENST00000650667.1:c.*482G>A	ENSP00000498593.1:n.*482G>A
ENST00000651642.1:c.163G>A	ENSP00000498779.1:p.Glu55Lys
ENST00000298139.5:c.868G>A	ENSP00000298139.5:p.Glu290Lys
NM_000553.4:c.868G>A , LRG_524t1:c.868G>A	NP_000544.2:p.Glu290Lys
XM_011544639.1:c.868G>A	XP_011542941.1:p.Glu290Lys
XR_949470.1:n.1141G>A
XR_949471.1:n.1141G>A
XR_949472.1:n.1141G>A
NM_000553.5:c.868G>A	NP_000544.2:p.Glu290Lys
XM_011544639.3:c.868G>A	XP_011542941.1:p.Glu290Lys
XM_024447265.1:c.658G>A	XP_024303033.1:p.Glu220Lys
XR_949470.3:n.1169G>A
XR_949471.3:n.1169G>A
XR_949472.3:n.1169G>A
NM_000553.6:c.868G>A MANE Select	NP_000544.2:p.Glu290Lys