Canonical Allele Identifier: CA370929439
Community Standard Title: NM_000553.6(WRN):c.3897C>A (p.Cys1299Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31157445C>A , CM000670.2:g.31157445C>A GRCh38
NC_000008.10:g.31014961C>A , CM000670.1:g.31014961C>A GRCh37
NC_000008.9:g.31134503C>A NCBI36
NG_008870.1:g.129184C>A , LRG_524:g.129184C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.3897C>A MANE Select NP_000544.2:p.Cys1299Ter
ENST00000298139.7:c.3897C>A MANE Select ENSP00000298139.5:p.Cys1299Ter
NM_000553.4:c.3897C>A , LRG_524t1:c.3897C>A NP_000544.2:p.Cys1299Ter
NM_000553.5:c.3897C>A NP_000544.2:p.Cys1299Ter
ENST00000298139.5:c.3897C>A ENSP00000298139.5:p.Cys1299Ter
ENST00000521620.5:n.2530C>A
ENST00000650667.1:c.*3511C>A ENSP00000498593.1:n.*3511C>A
XM_011544639.1:c.3816C>A XP_011542941.1:p.Cys1272Ter
XM_011544639.3:c.3816C>A XP_011542941.1:p.Cys1272Ter
XM_011544640.1:c.2298C>A XP_011542942.1:p.Cys766Ter
XM_024447265.1:c.3687C>A XP_024303033.1:p.Cys1229Ter
XR_949470.1:n.4170C>A
XR_949470.3:n.4198C>A
XR_949471.1:n.4170C>A
XR_949471.3:n.4198C>A
XR_949472.1:n.4170C>A
XR_949472.3:n.4198C>A
XR_949643.1:n.457-8780G>T
XR_949644.1:n.381-8780G>T
XR_949647.1:n.1070-8780G>T
XR_949648.1:n.972-8780G>T