Canonical Allele Identifier: CA370500378

Gene: BMP1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22197420G>A , CM000670.2:g.22197420G>A	GRCh38
NC_000008.10:g.22054933G>A , CM000670.1:g.22054933G>A	GRCh37
NC_000008.9:g.22110878G>A	NCBI36
NG_029659.1:g.37281G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306349.13:c.2107G>A MANE Plus Clinical	ENSP00000306121.8:p.Glu703Lys
ENST00000306385.10:c.2107G>A MANE Select	ENSP00000305714.5:p.Asp703Asn
ENST00000520626.6:c.*1954G>A	ENSP00000430015.2:n.*1954G>A
ENST00000306349.12:c.2107G>A	ENSP00000306121.8:p.Glu703Lys
ENST00000306385.9:c.2107G>A	ENSP00000305714.5:p.Asp703Asn
ENST00000354870.5:c.*1364G>A	ENSP00000346941.5:n.*1364G>A
ENST00000471755.5:c.*737G>A	ENSP00000428665.1:n.*737G>A
ENST00000483364.5:c.*1364G>A	ENSP00000428249.1:n.*1364G>A
ENST00000518913.5:c.*1574G>A	ENSP00000427950.1:n.*1574G>A
ENST00000520626.5:c.*1954G>A	ENSP00000430015.1:n.*1954G>A
ENST00000520970.5:c.2107G>A	ENSP00000428332.1:p.Glu703Lys
ENST00000520982.5:c.*1574G>A	ENSP00000428798.1:n.*1574G>A
ENST00000521385.5:c.2107G>A	ENSP00000430406.1:p.Gly703Arg
NM_001199.3:c.2107G>A	NP_001190.1:p.Glu703Lys
NM_006129.4:c.2107G>A	NP_006120.1:p.Asp703Asn
NR_033403.1:n.2410G>A
NR_033404.1:n.2410G>A
XM_006716386.2:c.2107G>A	XP_006716449.2:p.Gly703Ser
XR_428315.2:n.2373G>A
XR_949458.1:n.2373G>A
XM_006716386.3:c.2107G>A	XP_006716449.2:p.Gly703Ser
XM_017013738.2:c.2107G>A	XP_016869227.1:p.Gly703Arg
XR_001745579.2:n.2315G>A
XR_949458.2:n.2315G>A
NM_006129.5:c.2107G>A MANE Select	NP_006120.1:p.Asp703Asn
NM_001199.4:c.2107G>A MANE Plus Clinical	NP_001190.1:p.Glu703Lys
NR_033403.2:n.2178G>A
NR_033404.2:n.2178G>A