Canonical Allele Identifier: CA370928233
Community Standard Title: NM_000553.6(WRN):c.3685C>T (p.Gln1229Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31150453C>T , CM000670.2:g.31150453C>T GRCh38
NC_000008.10:g.31007969C>T , CM000670.1:g.31007969C>T GRCh37
NC_000008.9:g.31127511C>T NCBI36
NG_008870.1:g.122192C>T , LRG_524:g.122192C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.3685C>T MANE Select NP_000544.2:p.Gln1229Ter
ENST00000298139.7:c.3685C>T MANE Select ENSP00000298139.5:p.Gln1229Ter
NM_000553.4:c.3685C>T , LRG_524t1:c.3685C>T NP_000544.2:p.Gln1229Ter
NM_000553.5:c.3685C>T NP_000544.2:p.Gln1229Ter
ENST00000298139.5:c.3685C>T ENSP00000298139.5:p.Gln1229Ter
ENST00000521620.5:n.2318C>T
ENST00000650667.1:c.*3299C>T ENSP00000498593.1:n.*3299C>T
XM_011544639.1:c.3604C>T XP_011542941.1:p.Gln1202Ter
XM_011544639.3:c.3604C>T XP_011542941.1:p.Gln1202Ter
XM_011544640.1:c.2086C>T XP_011542942.1:p.Gln696Ter
XM_024447265.1:c.3475C>T XP_024303033.1:p.Gln1159Ter
XR_949470.1:n.3958C>T
XR_949470.3:n.3986C>T
XR_949471.1:n.3958C>T
XR_949471.3:n.3986C>T
XR_949472.1:n.3958C>T
XR_949472.3:n.3986C>T
XR_949643.1:n.457-1788G>A
XR_949644.1:n.381-1788G>A
XR_949647.1:n.1070-1788G>A
XR_949648.1:n.972-1788G>A