Canonical Allele Identifier: CA253493
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 5452
ClinVar RCV Id: RCV000005785
dbSNP Id: rs121908448
MyVariant Identifiers: chr8:g.30948359A>T (hg19) chr8:g.31090843A>T (hg38)
PubMed: PMID:10628995 PMID:12827497
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31090843A>T , CM000670.2:g.31090843A>T GRCh38
NC_000008.10:g.30948359A>T , CM000670.1:g.30948359A>T GRCh37
NC_000008.9:g.31067901A>T NCBI36
NG_008870.1:g.62582A>T , LRG_524:g.62582A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298139.7:c.1730A>T MANE Select ENSP00000298139.5:p.Lys577Met
ENST00000650667.1:c.*1344A>T ENSP00000498593.1:n.*1344A>T
ENST00000298139.5:c.1730A>T ENSP00000298139.5:p.Lys577Met
ENST00000521620.5:n.363A>T
NM_000553.4:c.1730A>T , LRG_524t1:c.1730A>T NP_000544.2:p.Lys577Met
XM_011544639.1:c.1649A>T XP_011542941.1:p.Lys550Met
XM_011544640.1:c.131A>T XP_011542942.1:p.Lys44Met
XR_949470.1:n.2003A>T
XR_949471.1:n.2003A>T
XR_949472.1:n.2003A>T
NM_000553.5:c.1730A>T NP_000544.2:p.Lys577Met
XM_011544639.3:c.1649A>T XP_011542941.1:p.Lys550Met
XM_024447265.1:c.1520A>T XP_024303033.1:p.Lys507Met
XR_949470.3:n.2031A>T
XR_949471.3:n.2031A>T
XR_949472.3:n.2031A>T
NM_000553.6:c.1730A>T MANE Select NP_000544.2:p.Lys577Met
Search 100 bp 5'
Search 100 bp 3'