Canonical Allele Identifier: CA4665142

Gene: BMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22201861C>T , CM000670.2:g.22201861C>T	GRCh38
NC_000008.10:g.22059374C>T , CM000670.1:g.22059374C>T	GRCh37
NC_000008.9:g.22115319C>T	NCBI36
NG_029659.1:g.41722C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006129.5:c.2166C>T MANE Select	NP_006120.1:p.Phe722=
ENST00000306385.10:c.2166C>T MANE Select	ENSP00000305714.5:p.Phe722=
NM_006129.4:c.2166C>T	NP_006120.1:p.Phe722=
NR_033403.1:n.2469C>T
NR_033403.2:n.2237C>T
ENST00000306385.9:c.2166C>T	ENSP00000305714.5:p.Phe722=
ENST00000354870.5:c.*1423C>T	ENSP00000346941.5:n.*1423C>T
ENST00000520626.5:c.*2698C>T	ENSP00000430015.1:n.*2698C>T
ENST00000520626.6:c.*2698C>T	ENSP00000430015.2:n.*2698C>T
ENST00000520970.5:c.*658C>T	ENSP00000428332.1:n.*658C>T
ENST00000520982.5:c.*1633C>T	ENSP00000428798.1:n.*1633C>T
XR_001745579.2:n.3059C>T
XR_949458.1:n.2539C>T
XR_949458.2:n.2481C>T