Canonical Allele Identifier: CA370919633
Community Standard Title: NM_000553.6(WRN):c.856A>T (p.Lys286Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31080883A>T , CM000670.2:g.31080883A>T GRCh38
NC_000008.10:g.30938399A>T , CM000670.1:g.30938399A>T GRCh37
NC_000008.9:g.31057941A>T NCBI36
NG_008870.1:g.52622A>T , LRG_524:g.52622A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.856A>T MANE Select NP_000544.2:p.Lys286Ter
ENST00000298139.7:c.856A>T MANE Select ENSP00000298139.5:p.Lys286Ter
NM_000553.4:c.856A>T , LRG_524t1:c.856A>T NP_000544.2:p.Lys286Ter
NM_000553.5:c.856A>T NP_000544.2:p.Lys286Ter
ENST00000298139.5:c.856A>T ENSP00000298139.5:p.Lys286Ter
ENST00000650667.1:c.*470A>T ENSP00000498593.1:n.*470A>T
ENST00000651642.1:c.151A>T ENSP00000498779.1:p.Lys51Ter
XM_011544639.1:c.856A>T XP_011542941.1:p.Lys286Ter
XM_011544639.3:c.856A>T XP_011542941.1:p.Lys286Ter
XM_024447265.1:c.646A>T XP_024303033.1:p.Lys216Ter
XR_949470.1:n.1129A>T
XR_949470.3:n.1157A>T
XR_949471.1:n.1129A>T
XR_949471.3:n.1157A>T
XR_949472.1:n.1129A>T
XR_949472.3:n.1157A>T