Canonical Allele Identifier: CA370925134

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.31004570A>G (hg19) ; chr8:g.31147054A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147054A>G , CM000670.2:g.31147054A>G	GRCh38
NC_000008.10:g.31004570A>G , CM000670.1:g.31004570A>G	GRCh37
NC_000008.9:g.31124112A>G	NCBI36
NG_008870.1:g.118793A>G , LRG_524:g.118793A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3385A>G MANE Select	ENSP00000298139.5:p.Ile1129Val
ENST00000650667.1:c.*2999A>G	ENSP00000498593.1:n.*2999A>G
ENST00000298139.5:c.3385A>G	ENSP00000298139.5:p.Ile1129Val
ENST00000521620.5:n.2018A>G
NM_000553.4:c.3385A>G , LRG_524t1:c.3385A>G	NP_000544.2:p.Ile1129Val
XM_011544639.1:c.3304A>G	XP_011542941.1:p.Ile1102Val
XM_011544640.1:c.1786A>G	XP_011542942.1:p.Ile596Val
XR_949470.1:n.3658A>G
XR_949471.1:n.3658A>G
XR_949472.1:n.3658A>G
XR_949643.1:n.614+1454T>C
NM_000553.5:c.3385A>G	NP_000544.2:p.Ile1129Val
XM_011544639.3:c.3304A>G	XP_011542941.1:p.Ile1102Val
XM_024447265.1:c.3175A>G	XP_024303033.1:p.Ile1059Val
XR_949470.3:n.3686A>G
XR_949471.3:n.3686A>G
XR_949472.3:n.3686A>G
NM_000553.6:c.3385A>G MANE Select	NP_000544.2:p.Ile1129Val