Canonical Allele Identifier: CA370923056

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30999240T>G (hg19) ; chr8:g.31141724T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141724T>G , CM000670.2:g.31141724T>G	GRCh38
NC_000008.10:g.30999240T>G , CM000670.1:g.30999240T>G	GRCh37
NC_000008.9:g.31118782T>G	NCBI36
NG_008870.1:g.113463T>G , LRG_524:g.113463T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3182T>G MANE Select	ENSP00000298139.5:p.Leu1061Arg
ENST00000650667.1:c.*2796T>G	ENSP00000498593.1:n.*2796T>G
ENST00000298139.5:c.3182T>G	ENSP00000298139.5:p.Leu1061Arg
ENST00000521620.5:n.1815T>G
NM_000553.4:c.3182T>G , LRG_524t1:c.3182T>G	NP_000544.2:p.Leu1061Arg
XM_011544639.1:c.3101T>G	XP_011542941.1:p.Leu1034Arg
XM_011544640.1:c.1583T>G	XP_011542942.1:p.Leu528Arg
XR_949470.1:n.3455T>G
XR_949471.1:n.3455T>G
XR_949472.1:n.3455T>G
NM_000553.5:c.3182T>G	NP_000544.2:p.Leu1061Arg
XM_011544639.3:c.3101T>G	XP_011542941.1:p.Leu1034Arg
XM_024447265.1:c.2972T>G	XP_024303033.1:p.Leu991Arg
XR_949470.3:n.3483T>G
XR_949471.3:n.3483T>G
XR_949472.3:n.3483T>G
NM_000553.6:c.3182T>G MANE Select	NP_000544.2:p.Leu1061Arg