Canonical Allele Identifier: CA460171324

Gene: BMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22209569C>T , CM000670.2:g.22209569C>T	GRCh38
NC_000008.10:g.22067082C>T , CM000670.1:g.22067082C>T	GRCh37
NC_000008.9:g.22123027C>T	NCBI36
NG_029659.1:g.49430C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006129.5:c.2700C>T MANE Select	NP_006120.1:p.Tyr900=
ENST00000306385.10:c.2700C>T MANE Select	ENSP00000305714.5:p.Tyr900=
NM_006129.4:c.2700C>T	NP_006120.1:p.Tyr900=
NR_033403.1:n.3003C>T
NR_033403.2:n.2771C>T
ENST00000306385.9:c.2700C>T	ENSP00000305714.5:p.Tyr900=
ENST00000354870.5:c.*1957C>T	ENSP00000346941.5:n.*1957C>T
ENST00000520626.5:c.*3232C>T	ENSP00000430015.1:n.*3232C>T
ENST00000520626.6:c.*3232C>T	ENSP00000430015.2:n.*3232C>T
ENST00000520970.5:c.*1064C>T	ENSP00000428332.1:n.*1064C>T
ENST00000520982.5:c.*2167C>T	ENSP00000428798.1:n.*2167C>T
XR_001745579.2:n.3593C>T
XR_949458.1:n.3073C>T
XR_949458.2:n.3015C>T