Canonical Allele Identifier: CA580536003
Community Standard Title: NM_006129.5(BMP1):c.2575+12G>A
Gene: BMP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22207528G>A , CM000670.2:g.22207528G>A GRCh38
NC_000008.10:g.22065041G>A , CM000670.1:g.22065041G>A GRCh37
NC_000008.9:g.22120986G>A NCBI36
NG_029659.1:g.47389G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006129.5:c.2575+12G>A MANE Select NP_006120.1:n.2575+12G>A
ENST00000306385.10:c.2575+12G>A MANE Select ENSP00000305714.5:n.2575+12G>A
NM_006129.4:c.2575+12G>A NP_006120.1:n.2575+12G>A
NR_033403.1:n.2878+12G>A
NR_033403.2:n.2646+12G>A
ENST00000306385.9:c.2575+12G>A ENSP00000305714.5:n.2575+12G>A
ENST00000354870.5:c.*1832+12G>A ENSP00000346941.5:n.*1832+12G>A
ENST00000520626.5:c.*3107+12G>A ENSP00000430015.1:n.*3107+12G>A
ENST00000520626.6:c.*3107+12G>A ENSP00000430015.2:n.*3107+12G>A
ENST00000520970.5:c.*939+12G>A ENSP00000428332.1:n.*939+12G>A
ENST00000520982.5:c.*2042+12G>A ENSP00000428798.1:n.*2042+12G>A
XR_001745579.2:n.3468+12G>A
XR_949458.1:n.2948+12G>A
XR_949458.2:n.2890+12G>A