Canonical Allele Identifier: CA3156098595
Community Standard Title: NM_000553.6(WRN):c.1730A= (p.Lys577=)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31090843A= , CM000670.2:g.31090843A= GRCh38
NC_000008.10:g.30948359A= , CM000670.1:g.30948359A= GRCh37
NC_000008.9:g.31067901A= NCBI36
NG_008870.1:g.62582A= , LRG_524:g.62582A=

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.1730A= MANE Select NP_000544.2:p.Lys577=
ENST00000298139.7:c.1730A= MANE Select ENSP00000298139.5:p.Lys577=
NM_000553.4:c.1730A= , LRG_524t1:c.1730A= NP_000544.2:p.Lys577=
NM_000553.5:c.1730A= NP_000544.2:p.Lys577=
ENST00000298139.5:c.1730A= ENSP00000298139.5:p.Lys577=
ENST00000521620.5:n.363A=
ENST00000650667.1:c.*1344A= ENSP00000498593.1:n.*1344A=
XM_011544639.1:c.1649A= XP_011542941.1:p.Lys550=
XM_011544639.3:c.1649A= XP_011542941.1:p.Lys550=
XM_011544640.1:c.131A= XP_011542942.1:p.Lys44=
XM_024447265.1:c.1520A= XP_024303033.1:p.Lys507=
XR_949470.1:n.2003A=
XR_949470.3:n.2031A=
XR_949471.1:n.2003A=
XR_949471.3:n.2031A=
XR_949472.1:n.2003A=
XR_949472.3:n.2031A=