Canonical Allele Identifier: CA370503587

Gene: BMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22201201T>C , CM000670.2:g.22201201T>C	GRCh38
NC_000008.10:g.22058714T>C , CM000670.1:g.22058714T>C	GRCh37
NC_000008.9:g.22114659T>C	NCBI36
NG_029659.1:g.41062T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006129.5:c.2108-602T>C MANE Select	NP_006120.1:n.2108-602T>C
ENST00000306385.10:c.2108-602T>C MANE Select	ENSP00000305714.5:n.2108-602T>C
NM_001199.4:c.2191T>C MANE Plus Clinical	NP_001190.1:p.Ter731Arg
ENST00000306349.13:c.2191T>C MANE Plus Clinical	ENSP00000306121.8:p.Ter731Arg
NM_001199.3:c.2191T>C	NP_001190.1:p.Ter731Arg
NM_006129.4:c.2108-602T>C	NP_006120.1:n.2108-602T>C
NR_033403.1:n.2411-602T>C
NR_033403.2:n.2179-602T>C
NR_033404.1:n.2494T>C
NR_033404.2:n.2262T>C
ENST00000306349.12:c.2191T>C	ENSP00000306121.8:p.Ter731Arg
ENST00000306385.9:c.2108-602T>C	ENSP00000305714.5:n.2108-602T>C
ENST00000354870.5:c.*1365-602T>C	ENSP00000346941.5:n.*1365-602T>C
ENST00000518913.5:c.*1658T>C	ENSP00000427950.1:n.*1658T>C
ENST00000520626.5:c.*2038T>C	ENSP00000430015.1:n.*2038T>C
ENST00000520626.6:c.*2038T>C	ENSP00000430015.2:n.*2038T>C
ENST00000520970.5:c.2191T>C	ENSP00000428332.1:p.Ter731Arg
ENST00000520982.5:c.*1575-602T>C	ENSP00000428798.1:n.*1575-602T>C
ENST00000522332.1:n.1056T>C
XR_001745579.2:n.2399T>C
XR_428315.2:n.2581T>C
XR_949458.1:n.2481-602T>C
XR_949458.2:n.2423-602T>C