Canonical Allele Identifier: CA10170110

Gene: KREMEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29137584C>G , CM000684.2:g.29137584C>G	GRCh38
NC_000022.10:g.29533572C>G , CM000684.1:g.29533572C>G	GRCh37
NC_000022.9:g.27863572C>G	NCBI36
NG_052986.1:g.69507C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400335.9:c.874C>G MANE Select	ENSP00000383189.4:p.Leu292Val
ENST00000327813.9:c.874C>G	ENSP00000331242.5:p.Leu292Val
ENST00000400335.8:c.874C>G	ENSP00000383189.4:p.Leu292Val
ENST00000407188.5:c.868C>G	ENSP00000385431.1:p.Leu290Val
ENST00000453585.1:c.278C>G
ENST00000474001.1:n.463C>G
NM_001039570.2:c.874C>G	NP_001034659.2:p.Leu292Val
NM_032045.4:c.874C>G	NP_114434.3:p.Leu292Val
XM_011530429.1:c.874C>G	XP_011528731.1:p.Leu292Val
XM_011530430.1:c.595C>G	XP_011528732.1:p.Leu199Val
XM_011530431.1:c.559C>G	XP_011528733.1:p.Leu187Val
XM_011530432.1:c.457C>G	XP_011528734.1:p.Leu153Val
XM_011530429.2:c.874C>G	XP_011528731.1:p.Leu292Val
XM_011530430.2:c.595C>G	XP_011528732.1:p.Leu199Val
XM_011530431.2:c.559C>G	XP_011528733.1:p.Leu187Val
XM_011530432.2:c.457C>G	XP_011528734.1:p.Leu153Val
XM_017028989.1:c.595C>G	XP_016884478.1:p.Leu199Val
NM_001039570.3:c.874C>G MANE Select	NP_001034659.2:p.Leu292Val
NM_032045.5:c.874C>G	NP_114434.3:p.Leu292Val