Canonical Allele Identifier: CA10625206
Community Standard Title: NM_006129.5(BMP1):c.*333G>A
Gene: BMP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22212061G>A , CM000670.2:g.22212061G>A GRCh38
NC_000008.10:g.22069574G>A , CM000670.1:g.22069574G>A GRCh37
NC_000008.9:g.22125519G>A NCBI36
NG_029659.1:g.51922G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006129.5:c.*333G>A MANE Select NP_006120.1:n.*333G>A
ENST00000306385.10:c.*333G>A MANE Select ENSP00000305714.5:n.*333G>A
NM_006129.4:c.*333G>A NP_006120.1:n.*333G>A
NR_033403.1:n.3597G>A
NR_033403.2:n.3365G>A
ENST00000306385.9:c.*333G>A ENSP00000305714.5:n.*333G>A
ENST00000354870.5:c.*2551G>A ENSP00000346941.5:n.*2551G>A
ENST00000520626.6:c.*3826G>A ENSP00000430015.2:n.*3826G>A
ENST00000520970.5:c.*1658G>A ENSP00000428332.1:n.*1658G>A
XR_001745579.2:n.4187G>A
XR_949458.1:n.3667G>A
XR_949458.2:n.3609G>A