Canonical Allele Identifier: CA2400431250
Community Standard Title: NM_001039570.3(KREMEN1):c.626T= (p.Phe209=)
Gene: KREMEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29125411T= , CM000684.2:g.29125411T= GRCh38
NC_000022.10:g.29521399T= , CM000684.1:g.29521399T= GRCh37
NC_000022.9:g.27851399T= NCBI36
NG_052986.1:g.57334T=

Transcript Alleles

HGVS Amino-acid Change
NM_001039570.3:c.626T= MANE Select NP_001034659.2:p.Phe209=
ENST00000400335.9:c.626T= MANE Select ENSP00000383189.4:p.Phe209=
NM_001039570.2:c.626T= NP_001034659.2:p.Phe209=
NM_032045.4:c.626T= NP_114434.3:p.Phe209=
NM_032045.5:c.626T= NP_114434.3:p.Phe209=
ENST00000327813.9:c.626T= ENSP00000331242.5:p.Phe209=
ENST00000400335.8:c.626T= ENSP00000383189.4:p.Phe209=
ENST00000407188.5:c.620T= ENSP00000385431.1:p.Phe207=
ENST00000453585.1:c.190T=
ENST00000474001.1:n.215T=
XM_011530429.1:c.626T= XP_011528731.1:p.Phe209=
XM_011530429.2:c.626T= XP_011528731.1:p.Phe209=
XM_011530430.1:c.353-11931T= XP_011528732.1:n.353-11931T=
XM_011530430.2:c.353-11931T= XP_011528732.1:n.353-11931T=
XM_011530431.1:c.311T= XP_011528733.1:p.Phe104=
XM_011530431.2:c.311T= XP_011528733.1:p.Phe104=
XM_011530432.1:c.209T= XP_011528734.1:p.Phe70=
XM_011530432.2:c.209T= XP_011528734.1:p.Phe70=
XM_017028989.1:c.353-11931T= XP_016884478.1:n.353-11931T=