Canonical Allele Identifier: CA370912591
Community Standard Title: NM_000553.6(WRN):c.2153T>G (p.Leu718Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31111679T>G , CM000670.2:g.31111679T>G GRCh38
NC_000008.10:g.30969195T>G , CM000670.1:g.30969195T>G GRCh37
NC_000008.9:g.31088737T>G NCBI36
NG_008870.1:g.83418T>G , LRG_524:g.83418T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2153T>G MANE Select NP_000544.2:p.Leu718Ter
ENST00000298139.7:c.2153T>G MANE Select ENSP00000298139.5:p.Leu718Ter
NM_000553.4:c.2153T>G , LRG_524t1:c.2153T>G NP_000544.2:p.Leu718Ter
NM_000553.5:c.2153T>G NP_000544.2:p.Leu718Ter
ENST00000298139.5:c.2153T>G ENSP00000298139.5:p.Leu718Ter
ENST00000521620.5:n.786T>G
ENST00000650667.1:c.*1767T>G ENSP00000498593.1:n.*1767T>G
XM_011544639.1:c.2072T>G XP_011542941.1:p.Leu691Ter
XM_011544639.3:c.2072T>G XP_011542941.1:p.Leu691Ter
XM_011544640.1:c.554T>G XP_011542942.1:p.Leu185Ter
XM_024447265.1:c.1943T>G XP_024303033.1:p.Leu648Ter
XR_949470.1:n.2426T>G
XR_949470.3:n.2454T>G
XR_949471.1:n.2426T>G
XR_949471.3:n.2454T>G
XR_949472.1:n.2426T>G
XR_949472.3:n.2454T>G