Canonical Allele Identifier: CA370915524
Community Standard Title: NM_000553.6(WRN):c.2548C>T (p.Gln850Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31120342C>T , CM000670.2:g.31120342C>T GRCh38
NC_000008.10:g.30977858C>T , CM000670.1:g.30977858C>T GRCh37
NC_000008.9:g.31097400C>T NCBI36
NG_008870.1:g.92081C>T , LRG_524:g.92081C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2548C>T MANE Select NP_000544.2:p.Gln850Ter
ENST00000298139.7:c.2548C>T MANE Select ENSP00000298139.5:p.Gln850Ter
NM_000553.4:c.2548C>T , LRG_524t1:c.2548C>T NP_000544.2:p.Gln850Ter
NM_000553.5:c.2548C>T NP_000544.2:p.Gln850Ter
ENST00000298139.5:c.2548C>T ENSP00000298139.5:p.Gln850Ter
ENST00000520169.1:n.387C>T
ENST00000521620.5:n.1181C>T
ENST00000650667.1:c.*2162C>T ENSP00000498593.1:n.*2162C>T
XM_011544639.1:c.2467C>T XP_011542941.1:p.Gln823Ter
XM_011544639.3:c.2467C>T XP_011542941.1:p.Gln823Ter
XM_011544640.1:c.949C>T XP_011542942.1:p.Gln317Ter
XM_024447265.1:c.2338C>T XP_024303033.1:p.Gln780Ter
XR_949470.1:n.2821C>T
XR_949470.3:n.2849C>T
XR_949471.1:n.2821C>T
XR_949471.3:n.2849C>T
XR_949472.1:n.2821C>T
XR_949472.3:n.2849C>T