Canonical Allele Identifier: CA130156
Gene: BMP1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.22165439G>C
GRCh37 chr8:g.22022952G>C
Revel Score:
ENST00000306385 (MANE Select) 0.270
ENST00000354870 0.270
ENST00000397816 0.270
ENST00000306349 (MANE Plus Clinical) 0.270
ENST00000397814 0.270
gnomAD v2:
8:22022952 G / C
gnomAD v3:
8:22165439 G / C
gnomAD v4:
chr8-22165439-G-C
Joint Max Group AF 0.00000386 (SAS)
Exomes Max Group AF 0.00000266 (NFE)
ClinVar Allele:
45882
ClinVar RCV:
RCV000030847
RCV000059794
RCV001814013
ClinVar Variation:
37307
dbSNP:
318240762
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22165439G>C , CM000670.2:g.22165439G>C GRCh38
NC_000008.10:g.22022952G>C , CM000670.1:g.22022952G>C GRCh37
NC_000008.9:g.22078897G>C NCBI36
NG_016968.1:g.8769G>C
NG_029659.1:g.5300G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306349.13:c.34G>C MANE Plus Clinical ENSP00000306121.8:p.Gly12Arg
ENST00000306385.10:c.34G>C MANE Select ENSP00000305714.5:p.Gly12Arg
ENST00000520626.6:c.34G>C ENSP00000430015.2:p.Gly12Arg
ENST00000306349.12:c.34G>C ENSP00000306121.8:p.Gly12Arg
ENST00000306385.9:c.34G>C ENSP00000305714.5:p.Gly12Arg
ENST00000354870.5:c.34G>C ENSP00000346941.5:p.Gly12Arg
ENST00000397814.7:c.34G>C ENSP00000380915.4:p.Gly12Arg
ENST00000471755.5:c.34G>C ENSP00000428665.1:p.Gly12Arg
ENST00000483364.5:c.34G>C ENSP00000428249.1:p.Gly12Arg
ENST00000518656.5:c.34G>C ENSP00000430977.1:p.Gly12Arg
ENST00000518913.5:c.34G>C ENSP00000427950.1:p.Gly12Arg
ENST00000520626.5:c.34G>C ENSP00000430015.1:p.Gly12Arg
ENST00000520970.5:c.34G>C ENSP00000428332.1:p.Gly12Arg
ENST00000520982.5:c.34G>C ENSP00000428798.1:p.Gly12Arg
ENST00000521385.5:c.34G>C ENSP00000430406.1:p.Gly12Arg
NM_001199.3:c.34G>C NP_001190.1:p.Gly12Arg
NM_006129.4:c.34G>C NP_006120.1:p.Gly12Arg
NR_033403.1:n.300G>C
NR_033404.1:n.300G>C
XM_006716386.2:c.34G>C XP_006716449.2:p.Gly12Arg
XM_011544617.1:c.34G>C XP_011542919.1:p.Gly12Arg
XR_428315.2:n.300G>C
XR_949458.1:n.300G>C
XM_006716386.3:c.34G>C XP_006716449.2:p.Gly12Arg
XM_011544617.2:c.34G>C XP_011542919.1:p.Gly12Arg
XM_017013738.2:c.34G>C XP_016869227.1:p.Gly12Arg
XR_001745579.2:n.242G>C
XR_949458.2:n.242G>C
NM_006129.5:c.34G>C MANE Select NP_006120.1:p.Gly12Arg
NM_001199.4:c.34G>C MANE Plus Clinical NP_001190.1:p.Gly12Arg
NR_033403.2:n.68G>C
NR_033404.2:n.68G>C
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