Canonical Allele Identifier: CA1139895059

Gene: PMF1-BGLAP BGLAP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156242034T= , CM000663.2:g.156242034T=	GRCh38
NC_000001.10:g.156211825T= , CM000663.1:g.156211825T=	GRCh37
NC_000001.9:g.154478449T=	NCBI36
NG_047015.1:g.4875T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001199661.1:c.504-519T= (PMF1-BGLAP)	NP_001186590.1:n.504-519T=
NM_001199662.1:c.565-519T= (PMF1-BGLAP)	NP_001186591.1:n.565-519T=
NM_001199663.1:c.369-519T= (PMF1-BGLAP)	NP_001186592.1:n.369-519T=
NM_001199664.1:c.358-519T= (PMF1-BGLAP)	NP_001186593.1:n.358-519T=
NM_199173.5:c.-198T= (BGLAP)	NP_954642.1:n.-198T=
ENST00000320139.5:c.369-519T= (PMF1-BGLAP)	ENSP00000324909.5:n.369-519T=
ENST00000368272.4:c.-198T= (BGLAP)	ENSP00000357255.4:n.-198T=
ENST00000368276.8:c.504-519T= (PMF1-BGLAP)	ENSP00000357259.4:n.504-519T=
ENST00000490491.5:c.565-519T= (PMF1-BGLAP)	ENSP00000475561.1:n.565-519T=
ENST00000567140.3:c.358-519T= (PMF1-BGLAP)	ENSP00000458021.2:n.358-519T=