Canonical Allele Identifier: CA4704681
Community Standard Title: NM_000553.6(WRN):c.2241T>G (p.Leu747=)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31111767T>G , CM000670.2:g.31111767T>G GRCh38
NC_000008.10:g.30969283T>G , CM000670.1:g.30969283T>G GRCh37
NC_000008.9:g.31088825T>G NCBI36
NG_008870.1:g.83506T>G , LRG_524:g.83506T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2241T>G MANE Select NP_000544.2:p.Leu747=
ENST00000298139.7:c.2241T>G MANE Select ENSP00000298139.5:p.Leu747=
NM_000553.4:c.2241T>G , LRG_524t1:c.2241T>G NP_000544.2:p.Leu747=
NM_000553.5:c.2241T>G NP_000544.2:p.Leu747=
ENST00000298139.5:c.2241T>G ENSP00000298139.5:p.Leu747=
ENST00000521620.5:n.874T>G
ENST00000650667.1:c.*1855T>G ENSP00000498593.1:n.*1855T>G
XM_011544639.1:c.2160T>G XP_011542941.1:p.Leu720=
XM_011544639.3:c.2160T>G XP_011542941.1:p.Leu720=
XM_011544640.1:c.642T>G XP_011542942.1:p.Leu214=
XM_024447265.1:c.2031T>G XP_024303033.1:p.Leu677=
XR_949470.1:n.2514T>G
XR_949470.3:n.2542T>G
XR_949471.1:n.2514T>G
XR_949471.3:n.2542T>G
XR_949472.1:n.2514T>G
XR_949472.3:n.2542T>G