Canonical Allele Identifier: CA10170100

Gene: KREMEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29137548G>A , CM000684.2:g.29137548G>A	GRCh38
NC_000022.10:g.29533536G>A , CM000684.1:g.29533536G>A	GRCh37
NC_000022.9:g.27863536G>A	NCBI36
NG_052986.1:g.69471G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400335.9:c.838G>A MANE Select	ENSP00000383189.4:p.Val280Ile
ENST00000327813.9:c.838G>A	ENSP00000331242.5:p.Val280Ile
ENST00000400335.8:c.838G>A	ENSP00000383189.4:p.Val280Ile
ENST00000407188.5:c.832G>A	ENSP00000385431.1:p.Val278Ile
ENST00000453585.1:c.242G>A
ENST00000474001.1:n.427G>A
NM_001039570.2:c.838G>A	NP_001034659.2:p.Val280Ile
NM_032045.4:c.838G>A	NP_114434.3:p.Val280Ile
XM_011530429.1:c.838G>A	XP_011528731.1:p.Val280Ile
XM_011530430.1:c.559G>A	XP_011528732.1:p.Val187Ile
XM_011530431.1:c.523G>A	XP_011528733.1:p.Val175Ile
XM_011530432.1:c.421G>A	XP_011528734.1:p.Val141Ile
XM_011530429.2:c.838G>A	XP_011528731.1:p.Val280Ile
XM_011530430.2:c.559G>A	XP_011528732.1:p.Val187Ile
XM_011530431.2:c.523G>A	XP_011528733.1:p.Val175Ile
XM_011530432.2:c.421G>A	XP_011528734.1:p.Val141Ile
XM_017028989.1:c.559G>A	XP_016884478.1:p.Val187Ile
NM_001039570.3:c.838G>A MANE Select	NP_001034659.2:p.Val280Ile
NM_032045.5:c.838G>A	NP_114434.3:p.Val280Ile