Canonical Allele Identifier: CA370923127

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30999263T>G (hg19) ; chr8:g.31141747T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141747T>G , CM000670.2:g.31141747T>G	GRCh38
NC_000008.10:g.30999263T>G , CM000670.1:g.30999263T>G	GRCh37
NC_000008.9:g.31118805T>G	NCBI36
NG_008870.1:g.113486T>G , LRG_524:g.113486T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3205T>G MANE Select	ENSP00000298139.5:p.Leu1069Val
ENST00000650667.1:c.*2819T>G	ENSP00000498593.1:n.*2819T>G
ENST00000298139.5:c.3205T>G	ENSP00000298139.5:p.Leu1069Val
ENST00000521620.5:n.1838T>G
NM_000553.4:c.3205T>G , LRG_524t1:c.3205T>G	NP_000544.2:p.Leu1069Val
XM_011544639.1:c.3124T>G	XP_011542941.1:p.Leu1042Val
XM_011544640.1:c.1606T>G	XP_011542942.1:p.Leu536Val
XR_949470.1:n.3478T>G
XR_949471.1:n.3478T>G
XR_949472.1:n.3478T>G
NM_000553.5:c.3205T>G	NP_000544.2:p.Leu1069Val
XM_011544639.3:c.3124T>G	XP_011542941.1:p.Leu1042Val
XM_024447265.1:c.2995T>G	XP_024303033.1:p.Leu999Val
XR_949470.3:n.3506T>G
XR_949471.3:n.3506T>G
XR_949472.3:n.3506T>G
NM_000553.6:c.3205T>G MANE Select	NP_000544.2:p.Leu1069Val