Canonical Allele Identifier: CA1156080

Gene: BGLAP PMF1-BGLAP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156242556C>T , CM000663.2:g.156242556C>T	GRCh38
NC_000001.10:g.156212347C>T , CM000663.1:g.156212347C>T	GRCh37
NC_000001.9:g.154478971C>T	NCBI36
NG_047015.1:g.5397C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_199173.6:c.68C>T (BGLAP) MANE Select	NP_954642.1:p.Ala23Val
ENST00000368272.5:c.68C>T (BGLAP) MANE Select	ENSP00000357255.4:p.Ala23Val
NM_001199661.1:c.507C>T (PMF1-BGLAP)	NP_001186590.1:p.Cys169=
NM_001199662.1:c.568C>T (PMF1-BGLAP)	NP_001186591.1:p.Arg190Ter
NM_001199663.1:c.372C>T (PMF1-BGLAP)	NP_001186592.1:p.Cys124=
NM_001199664.1:c.361C>T (PMF1-BGLAP)	NP_001186593.1:p.Arg121Ter
NM_199173.4:c.68C>T (BGLAP)	NP_954642.1:p.Ala23Val
NM_199173.5:c.68C>T (BGLAP)	NP_954642.1:p.Ala23Val
ENST00000320139.5:c.372C>T (PMF1-BGLAP)	ENSP00000324909.5:p.Cys124=
ENST00000368272.4:c.68C>T (BGLAP)	ENSP00000357255.4:p.Ala23Val
ENST00000368276.8:c.507C>T (PMF1-BGLAP)	ENSP00000357259.4:p.Cys169=
ENST00000471413.1:n.368C>T (BGLAP)
ENST00000490491.5:c.568C>T (PMF1-BGLAP)	ENSP00000475561.1:p.Arg190Ter
ENST00000567140.3:c.361C>T (PMF1-BGLAP)	ENSP00000458021.2:p.Arg121Ter