Canonical Allele Identifier: CA460221595

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30924560A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067044A>C , CM000670.2:g.31067044A>C	GRCh38
NC_000008.10:g.30924560A>C , CM000670.1:g.30924560A>C	GRCh37
NC_000008.9:g.31044102A>C	NCBI36
NG_008870.1:g.38783A>C , LRG_524:g.38783A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.516A>C MANE Select	ENSP00000298139.5:p.Thr172=
ENST00000650667.1:c.*130A>C	ENSP00000498593.1:n.*130A>C
ENST00000298139.5:c.516A>C	ENSP00000298139.5:p.Thr172=
NM_000553.4:c.516A>C , LRG_524t1:c.516A>C	NP_000544.2:p.Thr172=
XM_011544639.1:c.516A>C	XP_011542941.1:p.Thr172=
XR_949470.1:n.789A>C
XR_949471.1:n.789A>C
XR_949472.1:n.789A>C
NM_000553.5:c.516A>C	NP_000544.2:p.Thr172=
XM_011544639.3:c.516A>C	XP_011542941.1:p.Thr172=
XM_024447265.1:c.306A>C	XP_024303033.1:p.Thr102=
XR_949470.3:n.817A>C
XR_949471.3:n.817A>C
XR_949472.3:n.817A>C
NM_000553.6:c.516A>C MANE Select	NP_000544.2:p.Thr172=