Canonical Allele Identifier: CA4665322

Gene: BMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22209462C>T , CM000670.2:g.22209462C>T	GRCh38
NC_000008.10:g.22066975C>T , CM000670.1:g.22066975C>T	GRCh37
NC_000008.9:g.22122920C>T	NCBI36
NG_029659.1:g.49323C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006129.5:c.2593C>T MANE Select	NP_006120.1:p.Arg865Trp
ENST00000306385.10:c.2593C>T MANE Select	ENSP00000305714.5:p.Arg865Trp
NM_006129.4:c.2593C>T	NP_006120.1:p.Arg865Trp
NR_033403.1:n.2896C>T
NR_033403.2:n.2664C>T
ENST00000306385.9:c.2593C>T	ENSP00000305714.5:p.Arg865Trp
ENST00000354870.5:c.*1850C>T	ENSP00000346941.5:n.*1850C>T
ENST00000520626.5:c.*3125C>T	ENSP00000430015.1:n.*3125C>T
ENST00000520626.6:c.*3125C>T	ENSP00000430015.2:n.*3125C>T
ENST00000520970.5:c.*957C>T	ENSP00000428332.1:n.*957C>T
ENST00000520982.5:c.*2060C>T	ENSP00000428798.1:n.*2060C>T
XR_001745579.2:n.3486C>T
XR_949458.1:n.2966C>T
XR_949458.2:n.2908C>T