Canonical Allele Identifier: CA370912881
Community Standard Title: NM_000553.6(WRN):c.2245G>T (p.Asp749Tyr)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31111771G>T , CM000670.2:g.31111771G>T GRCh38
NC_000008.10:g.30969287G>T , CM000670.1:g.30969287G>T GRCh37
NC_000008.9:g.31088829G>T NCBI36
NG_008870.1:g.83510G>T , LRG_524:g.83510G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2245G>T MANE Select NP_000544.2:p.Asp749Tyr
ENST00000298139.7:c.2245G>T MANE Select ENSP00000298139.5:p.Asp749Tyr
NM_000553.4:c.2245G>T , LRG_524t1:c.2245G>T NP_000544.2:p.Asp749Tyr
NM_000553.5:c.2245G>T NP_000544.2:p.Asp749Tyr
ENST00000298139.5:c.2245G>T ENSP00000298139.5:p.Asp749Tyr
ENST00000521620.5:n.878G>T
ENST00000650667.1:c.*1859G>T ENSP00000498593.1:n.*1859G>T
XM_011544639.1:c.2164G>T XP_011542941.1:p.Asp722Tyr
XM_011544639.3:c.2164G>T XP_011542941.1:p.Asp722Tyr
XM_011544640.1:c.646G>T XP_011542942.1:p.Asp216Tyr
XM_024447265.1:c.2035G>T XP_024303033.1:p.Asp679Tyr
XR_949470.1:n.2518G>T
XR_949470.3:n.2546G>T
XR_949471.1:n.2518G>T
XR_949471.3:n.2546G>T
XR_949472.1:n.2518G>T
XR_949472.3:n.2546G>T