Canonical Allele Identifier: CA370912580
Community Standard Title: NM_000553.6(WRN):c.2151C>A (p.Cys717Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31111677C>A , CM000670.2:g.31111677C>A GRCh38
NC_000008.10:g.30969193C>A , CM000670.1:g.30969193C>A GRCh37
NC_000008.9:g.31088735C>A NCBI36
NG_008870.1:g.83416C>A , LRG_524:g.83416C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2151C>A MANE Select NP_000544.2:p.Cys717Ter
ENST00000298139.7:c.2151C>A MANE Select ENSP00000298139.5:p.Cys717Ter
NM_000553.4:c.2151C>A , LRG_524t1:c.2151C>A NP_000544.2:p.Cys717Ter
NM_000553.5:c.2151C>A NP_000544.2:p.Cys717Ter
ENST00000298139.5:c.2151C>A ENSP00000298139.5:p.Cys717Ter
ENST00000521620.5:n.784C>A
ENST00000650667.1:c.*1765C>A ENSP00000498593.1:n.*1765C>A
XM_011544639.1:c.2070C>A XP_011542941.1:p.Cys690Ter
XM_011544639.3:c.2070C>A XP_011542941.1:p.Cys690Ter
XM_011544640.1:c.552C>A XP_011542942.1:p.Cys184Ter
XM_024447265.1:c.1941C>A XP_024303033.1:p.Cys647Ter
XR_949470.1:n.2424C>A
XR_949470.3:n.2452C>A
XR_949471.1:n.2424C>A
XR_949471.3:n.2452C>A
XR_949472.1:n.2424C>A
XR_949472.3:n.2452C>A