Canonical Allele Identifier: CA174911499
Community Standard Title: NM_000553.6(WRN):c.3775A>G (p.Met1259Val)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31154711A>G , CM000670.2:g.31154711A>G GRCh38
NC_000008.10:g.31012227A>G , CM000670.1:g.31012227A>G GRCh37
NC_000008.9:g.31131769A>G NCBI36
NG_008870.1:g.126450A>G , LRG_524:g.126450A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.3775A>G MANE Select NP_000544.2:p.Met1259Val
ENST00000298139.7:c.3775A>G MANE Select ENSP00000298139.5:p.Met1259Val
NM_000553.4:c.3775A>G , LRG_524t1:c.3775A>G NP_000544.2:p.Met1259Val
NM_000553.5:c.3775A>G NP_000544.2:p.Met1259Val
ENST00000298139.5:c.3775A>G ENSP00000298139.5:p.Met1259Val
ENST00000521620.5:n.2408A>G
ENST00000650667.1:c.*3389A>G ENSP00000498593.1:n.*3389A>G
XM_011544639.1:c.3694A>G XP_011542941.1:p.Met1232Val
XM_011544639.3:c.3694A>G XP_011542941.1:p.Met1232Val
XM_011544640.1:c.2176A>G XP_011542942.1:p.Met726Val
XM_024447265.1:c.3565A>G XP_024303033.1:p.Met1189Val
XR_949470.1:n.4048A>G
XR_949470.3:n.4076A>G
XR_949471.1:n.4048A>G
XR_949471.3:n.4076A>G
XR_949472.1:n.4048A>G
XR_949472.3:n.4076A>G
XR_949643.1:n.457-6046T>C
XR_949644.1:n.381-6046T>C
XR_949647.1:n.1070-6046T>C
XR_949648.1:n.972-6046T>C