Canonical Allele Identifier: CA1139660394

Gene: BMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22194924C>T , CM000670.2:g.22194924C>T	GRCh38
NC_000008.10:g.22052437C>T , CM000670.1:g.22052437C>T	GRCh37
NC_000008.9:g.22108382C>T	NCBI36
NG_029659.1:g.34785C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006129.5:c.1639+5C>T MANE Select	NP_006120.1:n.1639+5C>T
ENST00000306385.10:c.1639+5C>T MANE Select	ENSP00000305714.5:n.1639+5C>T
NM_001199.4:c.1639+5C>T MANE Plus Clinical	NP_001190.1:n.1639+5C>T
ENST00000306349.13:c.1639+5C>T MANE Plus Clinical	ENSP00000306121.8:n.1639+5C>T
NM_001199.3:c.1639+5C>T	NP_001190.1:n.1639+5C>T
NM_006129.4:c.1639+5C>T	NP_006120.1:n.1639+5C>T
NR_033403.1:n.1942+5C>T
NR_033403.2:n.1710+5C>T
NR_033404.1:n.1942+5C>T
NR_033404.2:n.1710+5C>T
ENST00000306349.12:c.1639+5C>T	ENSP00000306121.8:n.1639+5C>T
ENST00000306385.9:c.1639+5C>T	ENSP00000305714.5:n.1639+5C>T
ENST00000354870.5:c.*896+5C>T	ENSP00000346941.5:n.*896+5C>T
ENST00000471755.5:c.1639+5C>T	ENSP00000428665.1:n.1639+5C>T
ENST00000483364.5:c.*896+5C>T	ENSP00000428249.1:n.*896+5C>T
ENST00000517324.5:n.572+5C>T
ENST00000518913.5:c.*1106+5C>T	ENSP00000427950.1:n.*1106+5C>T
ENST00000520626.5:c.*1486+5C>T	ENSP00000430015.1:n.*1486+5C>T
ENST00000520626.6:c.*1486+5C>T	ENSP00000430015.2:n.*1486+5C>T
ENST00000520970.5:c.1639+5C>T	ENSP00000428332.1:n.1639+5C>T
ENST00000520982.5:c.*1106+5C>T	ENSP00000428798.1:n.*1106+5C>T
ENST00000521385.5:c.1639+5C>T	ENSP00000430406.1:n.1639+5C>T
XM_006716386.2:c.1639+5C>T	XP_006716449.2:n.1639+5C>T
XM_006716386.3:c.1639+5C>T	XP_006716449.2:n.1639+5C>T
XM_011544617.1:c.1639+5C>T	XP_011542919.1:n.1639+5C>T
XM_011544617.2:c.1639+5C>T	XP_011542919.1:n.1639+5C>T
XM_017013738.2:c.1639+5C>T	XP_016869227.1:n.1639+5C>T
XR_001745579.2:n.1847+5C>T
XR_428315.2:n.1905+5C>T
XR_949458.1:n.1905+5C>T
XR_949458.2:n.1847+5C>T