Canonical Allele Identifier: CA10169979

Gene: KREMEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29121475G>T , CM000684.2:g.29121475G>T	GRCh38
NC_000022.10:g.29517463G>T , CM000684.1:g.29517463G>T	GRCh37
NC_000022.9:g.27847463G>T	NCBI36
NG_052986.1:g.53398G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400335.9:c.471G>T MANE Select	ENSP00000383189.4:p.Arg157Ser
ENST00000327813.9:c.471G>T	ENSP00000331242.5:p.Arg157Ser
ENST00000400335.8:c.471G>T	ENSP00000383189.4:p.Arg157Ser
ENST00000407188.5:c.465G>T	ENSP00000385431.1:p.Arg155Ser
ENST00000453585.1:c.35G>T
NM_001039570.2:c.471G>T	NP_001034659.2:p.Arg157Ser
NM_032045.4:c.471G>T	NP_114434.3:p.Arg157Ser
XM_011530429.1:c.471G>T	XP_011528731.1:p.Arg157Ser
XM_011530430.1:c.353-15867G>T	XP_011528732.1:n.353-15867G>T
XM_011530431.1:c.156G>T	XP_011528733.1:p.Arg52Ser
XM_011530432.1:c.61-3788G>T	XP_011528734.1:n.61-3788G>T
XM_011530429.2:c.471G>T	XP_011528731.1:p.Arg157Ser
XM_011530430.2:c.353-15867G>T	XP_011528732.1:n.353-15867G>T
XM_011530431.2:c.156G>T	XP_011528733.1:p.Arg52Ser
XM_011530432.2:c.61-3788G>T	XP_011528734.1:n.61-3788G>T
XM_017028989.1:c.353-15867G>T	XP_016884478.1:n.353-15867G>T
NM_001039570.3:c.471G>T MANE Select	NP_001034659.2:p.Arg157Ser
NM_032045.5:c.471G>T	NP_114434.3:p.Arg157Ser