Canonical Allele Identifier: CA370923030
Community Standard Title: NM_000553.6(WRN):c.3175C>T (p.Gln1059Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31141717C>T , CM000670.2:g.31141717C>T GRCh38
NC_000008.10:g.30999233C>T , CM000670.1:g.30999233C>T GRCh37
NC_000008.9:g.31118775C>T NCBI36
NG_008870.1:g.113456C>T , LRG_524:g.113456C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.3175C>T MANE Select NP_000544.2:p.Gln1059Ter
ENST00000298139.7:c.3175C>T MANE Select ENSP00000298139.5:p.Gln1059Ter
NM_000553.4:c.3175C>T , LRG_524t1:c.3175C>T NP_000544.2:p.Gln1059Ter
NM_000553.5:c.3175C>T NP_000544.2:p.Gln1059Ter
ENST00000298139.5:c.3175C>T ENSP00000298139.5:p.Gln1059Ter
ENST00000521620.5:n.1808C>T
ENST00000650667.1:c.*2789C>T ENSP00000498593.1:n.*2789C>T
XM_011544639.1:c.3094C>T XP_011542941.1:p.Gln1032Ter
XM_011544639.3:c.3094C>T XP_011542941.1:p.Gln1032Ter
XM_011544640.1:c.1576C>T XP_011542942.1:p.Gln526Ter
XM_024447265.1:c.2965C>T XP_024303033.1:p.Gln989Ter
XR_949470.1:n.3448C>T
XR_949470.3:n.3476C>T
XR_949471.1:n.3448C>T
XR_949471.3:n.3476C>T
XR_949472.1:n.3448C>T
XR_949472.3:n.3476C>T