Canonical Allele Identifier: CA370915148

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30977759T>A (hg19) ; chr8:g.31120243T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31120243T>A , CM000670.2:g.31120243T>A	GRCh38
NC_000008.10:g.30977759T>A , CM000670.1:g.30977759T>A	GRCh37
NC_000008.9:g.31097301T>A	NCBI36
NG_008870.1:g.91982T>A , LRG_524:g.91982T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.2449T>A MANE Select	ENSP00000298139.5:p.Cys817Ser
ENST00000650667.1:c.*2063T>A	ENSP00000498593.1:n.*2063T>A
ENST00000298139.5:c.2449T>A	ENSP00000298139.5:p.Cys817Ser
ENST00000520169.1:n.288T>A
ENST00000521620.5:n.1082T>A
NM_000553.4:c.2449T>A , LRG_524t1:c.2449T>A	NP_000544.2:p.Cys817Ser
XM_011544639.1:c.2368T>A	XP_011542941.1:p.Cys790Ser
XM_011544640.1:c.850T>A	XP_011542942.1:p.Cys284Ser
XR_949470.1:n.2722T>A
XR_949471.1:n.2722T>A
XR_949472.1:n.2722T>A
NM_000553.5:c.2449T>A	NP_000544.2:p.Cys817Ser
XM_011544639.3:c.2368T>A	XP_011542941.1:p.Cys790Ser
XM_024447265.1:c.2239T>A	XP_024303033.1:p.Cys747Ser
XR_949470.3:n.2750T>A
XR_949471.3:n.2750T>A
XR_949472.3:n.2750T>A
NM_000553.6:c.2449T>A MANE Select	NP_000544.2:p.Cys817Ser