Canonical Allele Identifier: CA354733039
Gene: EPHB1 HGNC NCBI
dbSNP:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.134951682C>A , CM000665.2:g.134951682C>A GRCh38
NC_000003.11:g.134670524C>A , CM000665.1:g.134670524C>A GRCh37
NC_000003.10:g.136153214C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000398015.8:c.435C>A MANE Select ENSP00000381097.3:p.Ser145Arg
ENST00000647596.1:c.435C>A ENSP00000497153.1:p.Ser145Arg
ENST00000398015.7:c.435C>A ENSP00000381097.3:p.Ser145Arg
ENST00000474732.1:c.369C>A ENSP00000418352.1:p.Ser123Arg
ENST00000482618.5:c.435C>A ENSP00000420338.1:p.Ser145Arg
ENST00000488154.5:n.435C>A
NM_004441.4:c.435C>A NP_004432.1:p.Ser145Arg
XM_011512540.1:c.417C>A XP_011510842.1:p.Ser139Arg
XM_011512541.1:c.369C>A XP_011510843.1:p.Ser123Arg
XM_017005866.2:c.435C>A XP_016861355.1:p.Ser145Arg
XM_017005867.1:c.417C>A XP_016861356.1:p.Ser139Arg
XM_024453389.1:c.369C>A XP_024309157.1:p.Ser123Arg
XM_024453390.1:c.369C>A XP_024309158.1:p.Ser123Arg
NM_004441.5:c.435C>A MANE Select NP_004432.1:p.Ser145Arg