Canonical Allele Identifier: CA4704477
Community Standard Title: NM_000553.6(WRN):c.1744C>T (p.Gln582Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31090857C>T , CM000670.2:g.31090857C>T GRCh38
NC_000008.10:g.30948373C>T , CM000670.1:g.30948373C>T GRCh37
NC_000008.9:g.31067915C>T NCBI36
NG_008870.1:g.62596C>T , LRG_524:g.62596C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.1744C>T MANE Select NP_000544.2:p.Gln582Ter
ENST00000298139.7:c.1744C>T MANE Select ENSP00000298139.5:p.Gln582Ter
NM_000553.4:c.1744C>T , LRG_524t1:c.1744C>T NP_000544.2:p.Gln582Ter
NM_000553.5:c.1744C>T NP_000544.2:p.Gln582Ter
ENST00000298139.5:c.1744C>T ENSP00000298139.5:p.Gln582Ter
ENST00000521620.5:n.377C>T
ENST00000650667.1:c.*1358C>T ENSP00000498593.1:n.*1358C>T
XM_011544639.1:c.1663C>T XP_011542941.1:p.Gln555Ter
XM_011544639.3:c.1663C>T XP_011542941.1:p.Gln555Ter
XM_011544640.1:c.145C>T XP_011542942.1:p.Gln49Ter
XM_024447265.1:c.1534C>T XP_024303033.1:p.Gln512Ter
XR_949470.1:n.2017C>T
XR_949470.3:n.2045C>T
XR_949471.1:n.2017C>T
XR_949471.3:n.2045C>T
XR_949472.1:n.2017C>T
XR_949472.3:n.2045C>T