Canonical Allele Identifier: CA173493079

Gene: BMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22179700T>C , CM000670.2:g.22179700T>C	GRCh38
NC_000008.10:g.22037213T>C , CM000670.1:g.22037213T>C	GRCh37
NC_000008.9:g.22093158T>C	NCBI36
NG_029659.1:g.19561T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006129.5:c.837-5T>C MANE Select	NP_006120.1:n.837-5T>C
ENST00000306385.10:c.837-5T>C MANE Select	ENSP00000305714.5:n.837-5T>C
NM_001199.4:c.837-5T>C MANE Plus Clinical	NP_001190.1:n.837-5T>C
ENST00000306349.13:c.837-5T>C MANE Plus Clinical	ENSP00000306121.8:n.837-5T>C
NM_001199.3:c.837-5T>C	NP_001190.1:n.837-5T>C
NM_006129.4:c.837-5T>C	NP_006120.1:n.837-5T>C
NR_033403.1:n.1140-5T>C
NR_033403.2:n.908-5T>C
NR_033404.1:n.1140-5T>C
NR_033404.2:n.908-5T>C
ENST00000306349.12:c.837-5T>C	ENSP00000306121.8:n.837-5T>C
ENST00000306385.9:c.837-5T>C	ENSP00000305714.5:n.837-5T>C
ENST00000354870.5:c.*94-5T>C	ENSP00000346941.5:n.*94-5T>C
ENST00000471755.5:c.837-5T>C	ENSP00000428665.1:n.837-5T>C
ENST00000483364.5:c.*94-5T>C	ENSP00000428249.1:n.*94-5T>C
ENST00000518913.5:c.*304-5T>C	ENSP00000427950.1:n.*304-5T>C
ENST00000520626.5:c.*684-5T>C	ENSP00000430015.1:n.*684-5T>C
ENST00000520626.6:c.*684-5T>C	ENSP00000430015.2:n.*684-5T>C
ENST00000520970.5:c.837-5T>C	ENSP00000428332.1:n.837-5T>C
ENST00000520982.5:c.*304-5T>C	ENSP00000428798.1:n.*304-5T>C
ENST00000521385.5:c.837-5T>C	ENSP00000430406.1:n.837-5T>C
ENST00000523457.5:n.4T>C
XM_006716386.2:c.837-5T>C	XP_006716449.2:n.837-5T>C
XM_006716386.3:c.837-5T>C	XP_006716449.2:n.837-5T>C
XM_011544617.1:c.837-5T>C	XP_011542919.1:n.837-5T>C
XM_011544617.2:c.837-5T>C	XP_011542919.1:n.837-5T>C
XM_017013738.2:c.837-5T>C	XP_016869227.1:n.837-5T>C
XR_001745579.2:n.1045-5T>C
XR_428315.2:n.1103-5T>C
XR_949458.1:n.1103-5T>C
XR_949458.2:n.1045-5T>C