Canonical Allele Identifier: CA397558987
Community Standard Title: NM_002945.5(RPA1):c.718G>A (p.Glu240Lys)
Gene: RPA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1879020G>A , CM000679.2:g.1879020G>A GRCh38
NC_000017.10:g.1782314G>A , CM000679.1:g.1782314G>A GRCh37
NC_000017.9:g.1729064G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002945.5:c.718G>A MANE Select NP_002936.1:p.Glu240Lys
ENST00000254719.10:c.718G>A MANE Select ENSP00000254719.4:p.Glu240Lys
NM_001355120.1:c.679G>A NP_001342049.1:p.Glu227Lys
NM_001355120.2:c.679G>A NP_001342049.1:p.Glu227Lys
NM_001355121.1:c.718G>A NP_001342050.1:p.Glu240Lys
NM_001355121.2:c.718G>A NP_001342050.1:p.Glu240Lys
NM_002945.3:c.718G>A NP_002936.1:p.Glu240Lys
NM_002945.4:c.718G>A NP_002936.1:p.Glu240Lys
ENST00000254719.9:c.718G>A ENSP00000254719.4:p.Glu240Lys
ENST00000573924.1:n.442G>A
XM_024450863.1:c.724G>A XP_024306631.1:p.Glu242Lys