Canonical Allele Identifier: CA370928234
Community Standard Title: NM_000553.6(WRN):c.3686A>G (p.Gln1229Arg)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31150454A>G , CM000670.2:g.31150454A>G GRCh38
NC_000008.10:g.31007970A>G , CM000670.1:g.31007970A>G GRCh37
NC_000008.9:g.31127512A>G NCBI36
NG_008870.1:g.122193A>G , LRG_524:g.122193A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.3686A>G MANE Select NP_000544.2:p.Gln1229Arg
ENST00000298139.7:c.3686A>G MANE Select ENSP00000298139.5:p.Gln1229Arg
NM_000553.4:c.3686A>G , LRG_524t1:c.3686A>G NP_000544.2:p.Gln1229Arg
NM_000553.5:c.3686A>G NP_000544.2:p.Gln1229Arg
ENST00000298139.5:c.3686A>G ENSP00000298139.5:p.Gln1229Arg
ENST00000521620.5:n.2319A>G
ENST00000650667.1:c.*3300A>G ENSP00000498593.1:n.*3300A>G
XM_011544639.1:c.3605A>G XP_011542941.1:p.Gln1202Arg
XM_011544639.3:c.3605A>G XP_011542941.1:p.Gln1202Arg
XM_011544640.1:c.2087A>G XP_011542942.1:p.Gln696Arg
XM_024447265.1:c.3476A>G XP_024303033.1:p.Gln1159Arg
XR_949470.1:n.3959A>G
XR_949470.3:n.3987A>G
XR_949471.1:n.3959A>G
XR_949471.3:n.3987A>G
XR_949472.1:n.3959A>G
XR_949472.3:n.3987A>G
XR_949643.1:n.457-1789T>C
XR_949644.1:n.381-1789T>C
XR_949647.1:n.1070-1789T>C
XR_949648.1:n.972-1789T>C