Canonical Allele Identifier: CA370922623

Gene: WRN

Linked Data

• COSMIC: COSM5810751
• MyVariant Identifiers: chr8:g.30999108A>C (hg19) ; chr8:g.31141592A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141592A>C , CM000670.2:g.31141592A>C	GRCh38
NC_000008.10:g.30999108A>C , CM000670.1:g.30999108A>C	GRCh37
NC_000008.9:g.31118650A>C	NCBI36
NG_008870.1:g.113331A>C , LRG_524:g.113331A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3130A>C MANE Select	ENSP00000298139.5:p.Thr1044Pro
ENST00000650667.1:c.*2744A>C	ENSP00000498593.1:n.*2744A>C
ENST00000298139.5:c.3130A>C	ENSP00000298139.5:p.Thr1044Pro
ENST00000521620.5:n.1763A>C
NM_000553.4:c.3130A>C , LRG_524t1:c.3130A>C	NP_000544.2:p.Thr1044Pro
XM_011544639.1:c.3049A>C	XP_011542941.1:p.Thr1017Pro
XM_011544640.1:c.1531A>C	XP_011542942.1:p.Thr511Pro
XR_949470.1:n.3403A>C
XR_949471.1:n.3403A>C
XR_949472.1:n.3403A>C
NM_000553.5:c.3130A>C	NP_000544.2:p.Thr1044Pro
XM_011544639.3:c.3049A>C	XP_011542941.1:p.Thr1017Pro
XM_024447265.1:c.2920A>C	XP_024303033.1:p.Thr974Pro
XR_949470.3:n.3431A>C
XR_949471.3:n.3431A>C
XR_949472.3:n.3431A>C
NM_000553.6:c.3130A>C MANE Select	NP_000544.2:p.Thr1044Pro