Canonical Allele Identifier: CA370925168

Gene: WRN

Linked Data

• COSMIC: COSM5480526
• MyVariant Identifiers: chr8:g.31004576G>T (hg19) ; chr8:g.31147060G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147060G>T , CM000670.2:g.31147060G>T	GRCh38
NC_000008.10:g.31004576G>T , CM000670.1:g.31004576G>T	GRCh37
NC_000008.9:g.31124118G>T	NCBI36
NG_008870.1:g.118799G>T , LRG_524:g.118799G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3391G>T MANE Select	ENSP00000298139.5:p.Val1131Leu
ENST00000650667.1:c.*3005G>T	ENSP00000498593.1:n.*3005G>T
ENST00000298139.5:c.3391G>T	ENSP00000298139.5:p.Val1131Leu
ENST00000521620.5:n.2024G>T
NM_000553.4:c.3391G>T , LRG_524t1:c.3391G>T	NP_000544.2:p.Val1131Leu
XM_011544639.1:c.3310G>T	XP_011542941.1:p.Val1104Leu
XM_011544640.1:c.1792G>T	XP_011542942.1:p.Val598Leu
XR_949470.1:n.3664G>T
XR_949471.1:n.3664G>T
XR_949472.1:n.3664G>T
XR_949643.1:n.614+1448C>A
NM_000553.5:c.3391G>T	NP_000544.2:p.Val1131Leu
XM_011544639.3:c.3310G>T	XP_011542941.1:p.Val1104Leu
XM_024447265.1:c.3181G>T	XP_024303033.1:p.Val1061Leu
XR_949470.3:n.3692G>T
XR_949471.3:n.3692G>T
XR_949472.3:n.3692G>T
NM_000553.6:c.3391G>T MANE Select	NP_000544.2:p.Val1131Leu