Canonical Allele Identifier: CA10627500
Community Standard Title: NM_006129.5(BMP1):c.2622C>T (p.Tyr874=)
Gene: BMP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22209491C>T , CM000670.2:g.22209491C>T GRCh38
NC_000008.10:g.22067004C>T , CM000670.1:g.22067004C>T GRCh37
NC_000008.9:g.22122949C>T NCBI36
NG_029659.1:g.49352C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006129.5:c.2622C>T MANE Select NP_006120.1:p.Tyr874=
ENST00000306385.10:c.2622C>T MANE Select ENSP00000305714.5:p.Tyr874=
NM_006129.4:c.2622C>T NP_006120.1:p.Tyr874=
NR_033403.1:n.2925C>T
NR_033403.2:n.2693C>T
ENST00000306385.9:c.2622C>T ENSP00000305714.5:p.Tyr874=
ENST00000354870.5:c.*1879C>T ENSP00000346941.5:n.*1879C>T
ENST00000520626.5:c.*3154C>T ENSP00000430015.1:n.*3154C>T
ENST00000520626.6:c.*3154C>T ENSP00000430015.2:n.*3154C>T
ENST00000520970.5:c.*986C>T ENSP00000428332.1:n.*986C>T
ENST00000520982.5:c.*2089C>T ENSP00000428798.1:n.*2089C>T
XR_001745579.2:n.3515C>T
XR_949458.1:n.2995C>T
XR_949458.2:n.2937C>T