Canonical Allele Identifier: CA389783242
Community Standard Title: NM_001202.6(BMP4):c.1118G>A (p.Cys373Tyr)
Gene: BMP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.53950141C>T , CM000676.2:g.53950141C>T GRCh38
NC_000014.8:g.54416859C>T , CM000676.1:g.54416859C>T GRCh37
NC_000014.7:g.53486609C>T NCBI36
NG_009215.1:g.11696G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001202.6:c.1118G>A MANE Select NP_001193.2:p.Cys373Tyr
ENST00000245451.9:c.1118G>A MANE Select ENSP00000245451.4:p.Cys373Tyr
NM_001202.3:c.1118G>A NP_001193.2:p.Cys373Tyr
NM_001202.5:c.1118G>A NP_001193.2:p.Cys373Tyr
NM_001347912.1:c.1259G>A NP_001334841.1:p.Cys420Tyr
NM_001347913.1:c.929G>A NP_001334842.1:p.Cys310Tyr
NM_001347913.2:c.929G>A NP_001334842.1:p.Cys310Tyr
NM_001347914.1:c.1118G>A NP_001334843.1:p.Cys373Tyr
NM_001347914.2:c.1118G>A NP_001334843.1:p.Cys373Tyr
NM_001347915.1:c.929G>A NP_001334844.1:p.Cys310Tyr
NM_001347915.2:c.929G>A NP_001334844.1:p.Cys310Tyr
NM_001347916.1:c.1118G>A NP_001334845.1:p.Cys373Tyr
NM_001347917.1:c.929G>A NP_001334846.1:p.Cys310Tyr
NM_130850.2:c.1118G>A NP_570911.2:p.Cys373Tyr
NM_130850.4:c.1118G>A NP_570911.2:p.Cys373Tyr
NM_130850.5:c.1118G>A NP_570911.2:p.Cys373Tyr
NM_130851.2:c.1118G>A NP_570912.2:p.Cys373Tyr
NM_130851.3:c.1118G>A NP_570912.2:p.Cys373Tyr
NM_130851.4:c.1118G>A NP_570912.2:p.Cys373Tyr
ENST00000245451.8:c.1118G>A ENSP00000245451.4:p.Cys373Tyr
ENST00000417573.5:c.1118G>A ENSP00000394165.1:p.Cys373Tyr
ENST00000558984.1:c.1118G>A ENSP00000454134.1:p.Cys373Tyr
ENST00000559087.5:c.1118G>A ENSP00000453485.1:p.Cys373Tyr
XM_005268015.3:c.1118G>A XP_005268072.1:p.Cys373Tyr