Canonical Allele Identifier: CA370928840

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.31012146C>A (hg19) ; chr8:g.31154630C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31154630C>A , CM000670.2:g.31154630C>A	GRCh38
NC_000008.10:g.31012146C>A , CM000670.1:g.31012146C>A	GRCh37
NC_000008.9:g.31131688C>A	NCBI36
NG_008870.1:g.126369C>A , LRG_524:g.126369C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3694C>A MANE Select	ENSP00000298139.5:p.Leu1232Ile
ENST00000650667.1:c.*3308C>A	ENSP00000498593.1:n.*3308C>A
ENST00000298139.5:c.3694C>A	ENSP00000298139.5:p.Leu1232Ile
ENST00000521620.5:n.2327C>A
NM_000553.4:c.3694C>A , LRG_524t1:c.3694C>A	NP_000544.2:p.Leu1232Ile
XM_011544639.1:c.3613C>A	XP_011542941.1:p.Leu1205Ile
XM_011544640.1:c.2095C>A	XP_011542942.1:p.Leu699Ile
XR_949470.1:n.3967C>A
XR_949471.1:n.3967C>A
XR_949472.1:n.3967C>A
XR_949643.1:n.457-5965G>T
XR_949644.1:n.381-5965G>T
XR_949647.1:n.1070-5965G>T
XR_949648.1:n.972-5965G>T
NM_000553.5:c.3694C>A	NP_000544.2:p.Leu1232Ile
XM_011544639.3:c.3613C>A	XP_011542941.1:p.Leu1205Ile
XM_024447265.1:c.3484C>A	XP_024303033.1:p.Leu1162Ile
XR_949470.3:n.3995C>A
XR_949471.3:n.3995C>A
XR_949472.3:n.3995C>A
NM_000553.6:c.3694C>A MANE Select	NP_000544.2:p.Leu1232Ile