Canonical Allele Identifier: CA1156173
Gene: BGLAP HGNC NCBI
PMF1-BGLAP HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.156243140G>A
GRCh37 chr1:g.156212931G>A
Revel Score:
ENST00000368272 (MANE Select) 0.187
gnomAD v2:
1:156212931 G / A
gnomAD v3:
1:156243140 G / A
gnomAD v4:
chr1-156243140-G-A
Joint Max Group AF 0.04583771 (AFR)
Genomes Max Group AF 0.04497145 (AFR)
Exomes Max Group AF 0.04572434 (AFR)
ClinVar RCV:
RCV000961307
ClinVar Variation:
780264
dbSNP:
34702397
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156243140G>A , CM000663.2:g.156243140G>A GRCh38
NC_000001.10:g.156212931G>A , CM000663.1:g.156212931G>A GRCh37
NC_000001.9:g.154479555G>A NCBI36
NG_047015.1:g.5981G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368272.5:c.281G>A (BGLAP) MANE Select ENSP00000357255.4:p.Arg94Gln
ENST00000320139.5:c.*57G>A (PMF1-BGLAP) ENSP00000324909.5:n.*57G>A
ENST00000368272.4:c.281G>A (BGLAP) ENSP00000357255.4:p.Arg94Gln
ENST00000368276.8:c.*57G>A (PMF1-BGLAP) ENSP00000357259.4:n.*57G>A
ENST00000471413.1:n.782G>A (BGLAP)
ENST00000490491.5:c.*145G>A (PMF1-BGLAP) ENSP00000475561.1:n.*145G>A
ENST00000567140.3:c.*145G>A (PMF1-BGLAP) ENSP00000458021.2:n.*145G>A
NM_001199661.1:c.*57G>A (PMF1-BGLAP) NP_001186590.1:n.*57G>A
NM_001199662.1:c.*145G>A (PMF1-BGLAP) NP_001186591.1:n.*145G>A
NM_001199663.1:c.*57G>A (PMF1-BGLAP) NP_001186592.1:n.*57G>A
NM_001199664.1:c.*145G>A (PMF1-BGLAP) NP_001186593.1:n.*145G>A
NM_199173.4:c.281G>A (BGLAP) NP_954642.1:p.Arg94Gln
NM_199173.5:c.281G>A (BGLAP) NP_954642.1:p.Arg94Gln
NM_199173.6:c.281G>A (BGLAP) MANE Select NP_954642.1:p.Arg94Gln
Search 100 bp 5'
Search 100 bp 3'