Canonical Allele Identifier: CA10170089
Gene: KREMEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29137511G>A , CM000684.2:g.29137511G>A GRCh38
NC_000022.10:g.29533499G>A , CM000684.1:g.29533499G>A GRCh37
NC_000022.9:g.27863499G>A NCBI36
NG_052986.1:g.69434G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400335.9:c.801G>A MANE Select ENSP00000383189.4:p.Ala267=
ENST00000327813.9:c.801G>A ENSP00000331242.5:p.Ala267=
ENST00000400335.8:c.801G>A ENSP00000383189.4:p.Ala267=
ENST00000407188.5:c.795G>A ENSP00000385431.1:p.Ala265=
ENST00000453585.1:c.205G>A
ENST00000474001.1:n.390G>A
NM_001039570.2:c.801G>A NP_001034659.2:p.Ala267=
NM_032045.4:c.801G>A NP_114434.3:p.Ala267=
XM_011530429.1:c.801G>A XP_011528731.1:p.Ala267=
XM_011530430.1:c.522G>A XP_011528732.1:p.Ala174=
XM_011530431.1:c.486G>A XP_011528733.1:p.Ala162=
XM_011530432.1:c.384G>A XP_011528734.1:p.Ala128=
XM_011530429.2:c.801G>A XP_011528731.1:p.Ala267=
XM_011530430.2:c.522G>A XP_011528732.1:p.Ala174=
XM_011530431.2:c.486G>A XP_011528733.1:p.Ala162=
XM_011530432.2:c.384G>A XP_011528734.1:p.Ala128=
XM_017028989.1:c.522G>A XP_016884478.1:p.Ala174=
NM_001039570.3:c.801G>A MANE Select NP_001034659.2:p.Ala267=
NM_032045.5:c.801G>A NP_114434.3:p.Ala267=