Canonical Allele Identifier: CA370928255
Community Standard Title: NM_000553.6(WRN):c.1828A>T (p.Lys610Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31090941A>T , CM000670.2:g.31090941A>T GRCh38
NC_000008.10:g.30948457A>T , CM000670.1:g.30948457A>T GRCh37
NC_000008.9:g.31067999A>T NCBI36
NG_008870.1:g.62680A>T , LRG_524:g.62680A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.1828A>T MANE Select NP_000544.2:p.Lys610Ter
ENST00000298139.7:c.1828A>T MANE Select ENSP00000298139.5:p.Lys610Ter
NM_000553.4:c.1828A>T , LRG_524t1:c.1828A>T NP_000544.2:p.Lys610Ter
NM_000553.5:c.1828A>T NP_000544.2:p.Lys610Ter
ENST00000298139.5:c.1828A>T ENSP00000298139.5:p.Lys610Ter
ENST00000521620.5:n.461A>T
ENST00000650667.1:c.*1442A>T ENSP00000498593.1:n.*1442A>T
XM_011544639.1:c.1747A>T XP_011542941.1:p.Lys583Ter
XM_011544639.3:c.1747A>T XP_011542941.1:p.Lys583Ter
XM_011544640.1:c.229A>T XP_011542942.1:p.Lys77Ter
XM_024447265.1:c.1618A>T XP_024303033.1:p.Lys540Ter
XR_949470.1:n.2101A>T
XR_949470.3:n.2129A>T
XR_949471.1:n.2101A>T
XR_949471.3:n.2129A>T
XR_949472.1:n.2101A>T
XR_949472.3:n.2129A>T