Canonical Allele Identifier: CA580536488
Community Standard Title: NM_006129.5(BMP1):c.*121C>G
Gene: BMP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22211849C>G , CM000670.2:g.22211849C>G GRCh38
NC_000008.10:g.22069362C>G , CM000670.1:g.22069362C>G GRCh37
NC_000008.9:g.22125307C>G NCBI36
NG_029659.1:g.51710C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006129.5:c.*121C>G MANE Select NP_006120.1:n.*121C>G
ENST00000306385.10:c.*121C>G MANE Select ENSP00000305714.5:n.*121C>G
NM_006129.4:c.*121C>G NP_006120.1:n.*121C>G
NR_033403.1:n.3385C>G
NR_033403.2:n.3153C>G
ENST00000306385.9:c.*121C>G ENSP00000305714.5:n.*121C>G
ENST00000354870.5:c.*2339C>G ENSP00000346941.5:n.*2339C>G
ENST00000520626.5:c.*3614C>G ENSP00000430015.1:n.*3614C>G
ENST00000520626.6:c.*3614C>G ENSP00000430015.2:n.*3614C>G
ENST00000520970.5:c.*1446C>G ENSP00000428332.1:n.*1446C>G
ENST00000520982.5:c.*2549C>G ENSP00000428798.1:n.*2549C>G
XR_001745579.2:n.3975C>G
XR_949458.1:n.3455C>G
XR_949458.2:n.3397C>G