Canonical Allele Identifier: CA370925512

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.31004632G>T (hg19) ; chr8:g.31147116G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147116G>T , CM000670.2:g.31147116G>T	GRCh38
NC_000008.10:g.31004632G>T , CM000670.1:g.31004632G>T	GRCh37
NC_000008.9:g.31124174G>T	NCBI36
NG_008870.1:g.118855G>T , LRG_524:g.118855G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3447G>T MANE Select	ENSP00000298139.5:p.Glu1149Asp
ENST00000650667.1:c.*3061G>T	ENSP00000498593.1:n.*3061G>T
ENST00000298139.5:c.3447G>T	ENSP00000298139.5:p.Glu1149Asp
ENST00000521620.5:n.2080G>T
NM_000553.4:c.3447G>T , LRG_524t1:c.3447G>T	NP_000544.2:p.Glu1149Asp
XM_011544639.1:c.3366G>T	XP_011542941.1:p.Glu1122Asp
XM_011544640.1:c.1848G>T	XP_011542942.1:p.Glu616Asp
XR_949470.1:n.3720G>T
XR_949471.1:n.3720G>T
XR_949472.1:n.3720G>T
XR_949643.1:n.614+1392C>A
NM_000553.5:c.3447G>T	NP_000544.2:p.Glu1149Asp
XM_011544639.3:c.3366G>T	XP_011542941.1:p.Glu1122Asp
XM_024447265.1:c.3237G>T	XP_024303033.1:p.Glu1079Asp
XR_949470.3:n.3748G>T
XR_949471.3:n.3748G>T
XR_949472.3:n.3748G>T
NM_000553.6:c.3447G>T MANE Select	NP_000544.2:p.Glu1149Asp