Canonical Allele Identifier: CA10170173

Gene: KREMEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29138676C>T , CM000684.2:g.29138676C>T	GRCh38
NC_000022.10:g.29534664C>T , CM000684.1:g.29534664C>T	GRCh37
NC_000022.9:g.27864664C>T	NCBI36
NG_052986.1:g.70599C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400335.9:c.1017C>T MANE Select	ENSP00000383189.4:p.Ala339=
ENST00000327813.9:c.1017C>T	ENSP00000331242.5:p.Ala339=
ENST00000400335.8:c.1017C>T	ENSP00000383189.4:p.Ala339=
ENST00000407188.5:c.1011C>T	ENSP00000385431.1:p.Ala337=
ENST00000453585.1:c.421C>T
NM_001039570.2:c.1017C>T	NP_001034659.2:p.Ala339=
NM_032045.4:c.1017C>T	NP_114434.3:p.Ala339=
XM_011530429.1:c.1017C>T	XP_011528731.1:p.Ala339=
XM_011530430.1:c.738C>T	XP_011528732.1:p.Ala246=
XM_011530431.1:c.702C>T	XP_011528733.1:p.Ala234=
XM_011530432.1:c.600C>T	XP_011528734.1:p.Ala200=
XM_011530429.2:c.1017C>T	XP_011528731.1:p.Ala339=
XM_011530430.2:c.738C>T	XP_011528732.1:p.Ala246=
XM_011530431.2:c.702C>T	XP_011528733.1:p.Ala234=
XM_011530432.2:c.600C>T	XP_011528734.1:p.Ala200=
XM_017028989.1:c.738C>T	XP_016884478.1:p.Ala246=
NM_001039570.3:c.1017C>T MANE Select	NP_001034659.2:p.Ala339=
NM_032045.5:c.1017C>T	NP_114434.3:p.Ala339=