Canonical Allele Identifier: CA1770263756
Community Standard Title: NM_006129.5(BMP1):c.34G= (p.Gly12=)
Gene: BMP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22165439G= , CM000670.2:g.22165439G= GRCh38
NC_000008.10:g.22022952G= , CM000670.1:g.22022952G= GRCh37
NC_000008.9:g.22078897G= NCBI36
NG_016968.1:g.8769G=
NG_029659.1:g.5300G=

Transcript Alleles

HGVS Amino-acid Change
NM_006129.5:c.34G= MANE Select NP_006120.1:p.Gly12=
ENST00000306385.10:c.34G= MANE Select ENSP00000305714.5:p.Gly12=
NM_001199.4:c.34G= MANE Plus Clinical NP_001190.1:p.Gly12=
ENST00000306349.13:c.34G= MANE Plus Clinical ENSP00000306121.8:p.Gly12=
NM_001199.3:c.34G= NP_001190.1:p.Gly12=
NM_006129.4:c.34G= NP_006120.1:p.Gly12=
NR_033403.1:n.300G=
NR_033403.2:n.68G=
NR_033404.1:n.300G=
NR_033404.2:n.68G=
ENST00000306349.12:c.34G= ENSP00000306121.8:p.Gly12=
ENST00000306385.9:c.34G= ENSP00000305714.5:p.Gly12=
ENST00000354870.5:c.34G= ENSP00000346941.5:p.Gly12=
ENST00000397814.7:c.34G= ENSP00000380915.4:p.Gly12=
ENST00000471755.5:c.34G= ENSP00000428665.1:p.Gly12=
ENST00000483364.5:c.34G= ENSP00000428249.1:p.Gly12=
ENST00000518656.5:c.34G= ENSP00000430977.1:p.Gly12=
ENST00000518913.5:c.34G= ENSP00000427950.1:p.Gly12=
ENST00000520626.5:c.34G= ENSP00000430015.1:p.Gly12=
ENST00000520626.6:c.34G= ENSP00000430015.2:p.Gly12=
ENST00000520970.5:c.34G= ENSP00000428332.1:p.Gly12=
ENST00000520982.5:c.34G= ENSP00000428798.1:p.Gly12=
ENST00000521385.5:c.34G= ENSP00000430406.1:p.Gly12=
XM_006716386.2:c.34G= XP_006716449.2:p.Gly12=
XM_006716386.3:c.34G= XP_006716449.2:p.Gly12=
XM_011544617.1:c.34G= XP_011542919.1:p.Gly12=
XM_011544617.2:c.34G= XP_011542919.1:p.Gly12=
XM_017013738.2:c.34G= XP_016869227.1:p.Gly12=
XR_001745579.2:n.242G=
XR_428315.2:n.300G=
XR_949458.1:n.300G=
XR_949458.2:n.242G=