Canonical Allele Identifier: CA162806

Gene: WRN

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31081176G>T , CM000670.2:g.31081176G>T	GRCh38
NC_000008.10:g.30938692G>T , CM000670.1:g.30938692G>T	GRCh37
NC_000008.9:g.31058234G>T	NCBI36
NG_008870.1:g.52915G>T , LRG_524:g.52915G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.1149G>T MANE Select	ENSP00000298139.5:p.Leu383Phe
ENST00000650667.1:c.*763G>T	ENSP00000498593.1:n.*763G>T
ENST00000651642.1:c.444G>T	ENSP00000498779.1:p.Leu148Phe
ENST00000298139.5:c.1149G>T	ENSP00000298139.5:p.Leu383Phe
NM_000553.4:c.1149G>T , LRG_524t1:c.1149G>T	NP_000544.2:p.Leu383Phe
XM_011544639.1:c.1149G>T	XP_011542941.1:p.Leu383Phe
XR_949470.1:n.1422G>T
XR_949471.1:n.1422G>T
XR_949472.1:n.1422G>T
NM_000553.5:c.1149G>T	NP_000544.2:p.Leu383Phe
XM_011544639.3:c.1149G>T	XP_011542941.1:p.Leu383Phe
XM_024447265.1:c.939G>T	XP_024303033.1:p.Leu313Phe
XR_949470.3:n.1450G>T
XR_949471.3:n.1450G>T
XR_949472.3:n.1450G>T
NM_000553.6:c.1149G>T MANE Select	NP_000544.2:p.Leu383Phe