Canonical Allele Identifier: CA370929145
Community Standard Title: NM_000553.6(WRN):c.3769C>T (p.Gln1257Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31154705C>T , CM000670.2:g.31154705C>T GRCh38
NC_000008.10:g.31012221C>T , CM000670.1:g.31012221C>T GRCh37
NC_000008.9:g.31131763C>T NCBI36
NG_008870.1:g.126444C>T , LRG_524:g.126444C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.3769C>T MANE Select NP_000544.2:p.Gln1257Ter
ENST00000298139.7:c.3769C>T MANE Select ENSP00000298139.5:p.Gln1257Ter
NM_000553.4:c.3769C>T , LRG_524t1:c.3769C>T NP_000544.2:p.Gln1257Ter
NM_000553.5:c.3769C>T NP_000544.2:p.Gln1257Ter
ENST00000298139.5:c.3769C>T ENSP00000298139.5:p.Gln1257Ter
ENST00000521620.5:n.2402C>T
ENST00000650667.1:c.*3383C>T ENSP00000498593.1:n.*3383C>T
XM_011544639.1:c.3688C>T XP_011542941.1:p.Gln1230Ter
XM_011544639.3:c.3688C>T XP_011542941.1:p.Gln1230Ter
XM_011544640.1:c.2170C>T XP_011542942.1:p.Gln724Ter
XM_024447265.1:c.3559C>T XP_024303033.1:p.Gln1187Ter
XR_949470.1:n.4042C>T
XR_949470.3:n.4070C>T
XR_949471.1:n.4042C>T
XR_949471.3:n.4070C>T
XR_949472.1:n.4042C>T
XR_949472.3:n.4070C>T
XR_949643.1:n.457-6040G>A
XR_949644.1:n.381-6040G>A
XR_949647.1:n.1070-6040G>A
XR_949648.1:n.972-6040G>A