Canonical Allele Identifier: CA10170155

Gene: KREMEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29138633A>G , CM000684.2:g.29138633A>G	GRCh38
NC_000022.10:g.29534621A>G , CM000684.1:g.29534621A>G	GRCh37
NC_000022.9:g.27864621A>G	NCBI36
NG_052986.1:g.70556A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400335.9:c.974A>G MANE Select	ENSP00000383189.4:p.Glu325Gly
ENST00000327813.9:c.974A>G	ENSP00000331242.5:p.Glu325Gly
ENST00000400335.8:c.974A>G	ENSP00000383189.4:p.Glu325Gly
ENST00000407188.5:c.968A>G	ENSP00000385431.1:p.Glu323Gly
ENST00000453585.1:c.378A>G
ENST00000474001.1:n.563A>G
NM_001039570.2:c.974A>G	NP_001034659.2:p.Glu325Gly
NM_032045.4:c.974A>G	NP_114434.3:p.Glu325Gly
XM_011530429.1:c.974A>G	XP_011528731.1:p.Glu325Gly
XM_011530430.1:c.695A>G	XP_011528732.1:p.Glu232Gly
XM_011530431.1:c.659A>G	XP_011528733.1:p.Glu220Gly
XM_011530432.1:c.557A>G	XP_011528734.1:p.Glu186Gly
XM_011530429.2:c.974A>G	XP_011528731.1:p.Glu325Gly
XM_011530430.2:c.695A>G	XP_011528732.1:p.Glu232Gly
XM_011530431.2:c.659A>G	XP_011528733.1:p.Glu220Gly
XM_011530432.2:c.557A>G	XP_011528734.1:p.Glu186Gly
XM_017028989.1:c.695A>G	XP_016884478.1:p.Glu232Gly
NM_001039570.3:c.974A>G MANE Select	NP_001034659.2:p.Glu325Gly
NM_032045.5:c.974A>G	NP_114434.3:p.Glu325Gly