Canonical Allele Identifier: CA4664897
Community Standard Title: NM_006129.5(BMP1):c.1927-13G>A
Gene: BMP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22197227G>A , CM000670.2:g.22197227G>A GRCh38
NC_000008.10:g.22054740G>A , CM000670.1:g.22054740G>A GRCh37
NC_000008.9:g.22110685G>A NCBI36
NG_029659.1:g.37088G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006129.5:c.1927-13G>A MANE Select NP_006120.1:n.1927-13G>A
ENST00000306385.10:c.1927-13G>A MANE Select ENSP00000305714.5:n.1927-13G>A
NM_001199.4:c.1927-13G>A MANE Plus Clinical NP_001190.1:n.1927-13G>A
ENST00000306349.13:c.1927-13G>A MANE Plus Clinical ENSP00000306121.8:n.1927-13G>A
NM_001199.3:c.1927-13G>A NP_001190.1:n.1927-13G>A
NM_006129.4:c.1927-13G>A NP_006120.1:n.1927-13G>A
NR_033403.1:n.2230-13G>A
NR_033403.2:n.1998-13G>A
NR_033404.1:n.2230-13G>A
NR_033404.2:n.1998-13G>A
ENST00000306349.12:c.1927-13G>A ENSP00000306121.8:n.1927-13G>A
ENST00000306385.9:c.1927-13G>A ENSP00000305714.5:n.1927-13G>A
ENST00000354870.5:c.*1184-13G>A ENSP00000346941.5:n.*1184-13G>A
ENST00000471755.5:c.*557-13G>A ENSP00000428665.1:n.*557-13G>A
ENST00000483364.5:c.*1184-13G>A ENSP00000428249.1:n.*1184-13G>A
ENST00000518913.5:c.*1394-13G>A ENSP00000427950.1:n.*1394-13G>A
ENST00000520626.5:c.*1774-13G>A ENSP00000430015.1:n.*1774-13G>A
ENST00000520626.6:c.*1774-13G>A ENSP00000430015.2:n.*1774-13G>A
ENST00000520970.5:c.1927-13G>A ENSP00000428332.1:n.1927-13G>A
ENST00000520982.5:c.*1394-13G>A ENSP00000428798.1:n.*1394-13G>A
ENST00000521385.5:c.1927-13G>A ENSP00000430406.1:n.1927-13G>A
XM_006716386.2:c.1927-13G>A XP_006716449.2:n.1927-13G>A
XM_006716386.3:c.1927-13G>A XP_006716449.2:n.1927-13G>A
XM_017013738.2:c.1927-13G>A XP_016869227.1:n.1927-13G>A
XR_001745579.2:n.2135-13G>A
XR_428315.2:n.2193-13G>A
XR_949458.1:n.2193-13G>A
XR_949458.2:n.2135-13G>A