Canonical Allele Identifier: CA4665252

Gene: BMP1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22207386C>T , CM000670.2:g.22207386C>T	GRCh38
NC_000008.10:g.22064899C>T , CM000670.1:g.22064899C>T	GRCh37
NC_000008.9:g.22120844C>T	NCBI36
NG_029659.1:g.47247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306385.10:c.2445C>T MANE Select	ENSP00000305714.5:p.Ala815=
ENST00000520626.6:c.*2977C>T	ENSP00000430015.2:n.*2977C>T
ENST00000306385.9:c.2445C>T	ENSP00000305714.5:p.Ala815=
ENST00000354870.5:c.*1702C>T	ENSP00000346941.5:n.*1702C>T
ENST00000520626.5:c.*2977C>T	ENSP00000430015.1:n.*2977C>T
ENST00000520970.5:c.*809C>T	ENSP00000428332.1:n.*809C>T
ENST00000520982.5:c.*1912C>T	ENSP00000428798.1:n.*1912C>T
NM_006129.4:c.2445C>T	NP_006120.1:p.Ala815=
NR_033403.1:n.2748C>T
XR_949458.1:n.2818C>T
XR_001745579.2:n.3338C>T
XR_949458.2:n.2760C>T
NM_006129.5:c.2445C>T MANE Select	NP_006120.1:p.Ala815=
NR_033403.2:n.2516C>T