Canonical Allele Identifier: CA370922870

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30999205T>A (hg19) ; chr8:g.31141689T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141689T>A , CM000670.2:g.31141689T>A	GRCh38
NC_000008.10:g.30999205T>A , CM000670.1:g.30999205T>A	GRCh37
NC_000008.9:g.31118747T>A	NCBI36
NG_008870.1:g.113428T>A , LRG_524:g.113428T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3147T>A MANE Select	ENSP00000298139.5:p.Asn1049Lys
ENST00000650667.1:c.*2761T>A	ENSP00000498593.1:n.*2761T>A
ENST00000298139.5:c.3147T>A	ENSP00000298139.5:p.Asn1049Lys
ENST00000521620.5:n.1780T>A
NM_000553.4:c.3147T>A , LRG_524t1:c.3147T>A	NP_000544.2:p.Asn1049Lys
XM_011544639.1:c.3066T>A	XP_011542941.1:p.Asn1022Lys
XM_011544640.1:c.1548T>A	XP_011542942.1:p.Asn516Lys
XR_949470.1:n.3420T>A
XR_949471.1:n.3420T>A
XR_949472.1:n.3420T>A
NM_000553.5:c.3147T>A	NP_000544.2:p.Asn1049Lys
XM_011544639.3:c.3066T>A	XP_011542941.1:p.Asn1022Lys
XM_024447265.1:c.2937T>A	XP_024303033.1:p.Asn979Lys
XR_949470.3:n.3448T>A
XR_949471.3:n.3448T>A
XR_949472.3:n.3448T>A
NM_000553.6:c.3147T>A MANE Select	NP_000544.2:p.Asn1049Lys