Canonical Allele Identifier: CA4704402
Community Standard Title: NM_000553.6(WRN):c.1566T>G (p.Asp522Glu)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31087910T>G , CM000670.2:g.31087910T>G GRCh38
NC_000008.10:g.30945426T>G , CM000670.1:g.30945426T>G GRCh37
NC_000008.9:g.31064968T>G NCBI36
NG_008870.1:g.59649T>G , LRG_524:g.59649T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.1566T>G MANE Select NP_000544.2:p.Asp522Glu
ENST00000298139.7:c.1566T>G MANE Select ENSP00000298139.5:p.Asp522Glu
NM_000553.4:c.1566T>G , LRG_524t1:c.1566T>G NP_000544.2:p.Asp522Glu
NM_000553.5:c.1566T>G NP_000544.2:p.Asp522Glu
ENST00000298139.5:c.1566T>G ENSP00000298139.5:p.Asp522Glu
ENST00000521620.5:n.267T>G
ENST00000650667.1:c.*1180T>G ENSP00000498593.1:n.*1180T>G
XM_011544639.1:c.1485T>G XP_011542941.1:p.Asp495Glu
XM_011544639.3:c.1485T>G XP_011542941.1:p.Asp495Glu
XM_011544640.1:c.35T>G XP_011542942.1:p.Met12Arg
XM_024447265.1:c.1356T>G XP_024303033.1:p.Asp452Glu
XR_949470.1:n.1839T>G
XR_949470.3:n.1867T>G
XR_949471.1:n.1839T>G
XR_949471.3:n.1867T>G
XR_949472.1:n.1839T>G
XR_949472.3:n.1867T>G