Canonical Allele Identifier: CA370921378
Community Standard Title: NM_000553.6(WRN):c.1231G>T (p.Glu411Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31081258G>T , CM000670.2:g.31081258G>T GRCh38
NC_000008.10:g.30938774G>T , CM000670.1:g.30938774G>T GRCh37
NC_000008.9:g.31058316G>T NCBI36
NG_008870.1:g.52997G>T , LRG_524:g.52997G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.1231G>T MANE Select NP_000544.2:p.Glu411Ter
ENST00000298139.7:c.1231G>T MANE Select ENSP00000298139.5:p.Glu411Ter
NM_000553.4:c.1231G>T , LRG_524t1:c.1231G>T NP_000544.2:p.Glu411Ter
NM_000553.5:c.1231G>T NP_000544.2:p.Glu411Ter
ENST00000298139.5:c.1231G>T ENSP00000298139.5:p.Glu411Ter
ENST00000650667.1:c.*845G>T ENSP00000498593.1:n.*845G>T
ENST00000651642.1:c.526G>T ENSP00000498779.1:p.Glu176Ter
XM_011544639.1:c.1231G>T XP_011542941.1:p.Glu411Ter
XM_011544639.3:c.1231G>T XP_011542941.1:p.Glu411Ter
XM_024447265.1:c.1021G>T XP_024303033.1:p.Glu341Ter
XR_949470.1:n.1504G>T
XR_949470.3:n.1532G>T
XR_949471.1:n.1504G>T
XR_949471.3:n.1532G>T
XR_949472.1:n.1504G>T
XR_949472.3:n.1532G>T