Canonical Allele Identifier: CA2686448217

Gene: BMP1

Linked Data

• gnomAD v4: 8-22201467-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22201467G>C , CM000670.2:g.22201467G>C	GRCh38
NC_000008.10:g.22058980G>C , CM000670.1:g.22058980G>C	GRCh37
NC_000008.9:g.22114925G>C	NCBI36
NG_029659.1:g.41328G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306349.13:c.*264G>C MANE Plus Clinical	ENSP00000306121.8:n.*264G>C
ENST00000306385.10:c.2108-336G>C MANE Select	ENSP00000305714.5:n.2108-336G>C
ENST00000520626.6:c.*2304G>C	ENSP00000430015.2:n.*2304G>C
ENST00000306349.12:c.*264G>C	ENSP00000306121.8:n.*264G>C
ENST00000306385.9:c.2108-336G>C	ENSP00000305714.5:n.2108-336G>C
ENST00000354870.5:c.*1365-336G>C	ENSP00000346941.5:n.*1365-336G>C
ENST00000518913.5:c.*1924G>C	ENSP00000427950.1:n.*1924G>C
ENST00000520626.5:c.*2304G>C	ENSP00000430015.1:n.*2304G>C
ENST00000520970.5:c.*264G>C	ENSP00000428332.1:n.*264G>C
ENST00000520982.5:c.*1575-336G>C	ENSP00000428798.1:n.*1575-336G>C
ENST00000522332.1:n.1322G>C
NM_001199.3:c.*264G>C	NP_001190.1:n.*264G>C
NM_006129.4:c.2108-336G>C	NP_006120.1:n.2108-336G>C
NR_033403.1:n.2411-336G>C
NR_033404.1:n.2760G>C
XR_949458.1:n.2481-336G>C
XR_001745579.2:n.2665G>C
XR_949458.2:n.2423-336G>C
NM_006129.5:c.2108-336G>C MANE Select	NP_006120.1:n.2108-336G>C
NM_001199.4:c.*264G>C MANE Plus Clinical	NP_001190.1:n.*264G>C
NR_033403.2:n.2179-336G>C
NR_033404.2:n.2528G>C