Canonical Allele Identifier: CA389784204
Community Standard Title: NM_001202.6(BMP4):c.671G>A (p.Trp224Ter)
Gene: BMP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.53950588C>T , CM000676.2:g.53950588C>T GRCh38
NC_000014.8:g.54417306C>T , CM000676.1:g.54417306C>T GRCh37
NC_000014.7:g.53487056C>T NCBI36
NG_009215.1:g.11249G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001202.6:c.671G>A MANE Select NP_001193.2:p.Trp224Ter
ENST00000245451.9:c.671G>A MANE Select ENSP00000245451.4:p.Trp224Ter
NM_001202.3:c.671G>A NP_001193.2:p.Trp224Ter
NM_001202.5:c.671G>A NP_001193.2:p.Trp224Ter
NM_001347912.1:c.812G>A NP_001334841.1:p.Trp271Ter
NM_001347913.1:c.482G>A NP_001334842.1:p.Trp161Ter
NM_001347913.2:c.482G>A NP_001334842.1:p.Trp161Ter
NM_001347914.1:c.671G>A NP_001334843.1:p.Trp224Ter
NM_001347914.2:c.671G>A NP_001334843.1:p.Trp224Ter
NM_001347915.1:c.482G>A NP_001334844.1:p.Trp161Ter
NM_001347915.2:c.482G>A NP_001334844.1:p.Trp161Ter
NM_001347916.1:c.671G>A NP_001334845.1:p.Trp224Ter
NM_001347917.1:c.482G>A NP_001334846.1:p.Trp161Ter
NM_130850.2:c.671G>A NP_570911.2:p.Trp224Ter
NM_130850.4:c.671G>A NP_570911.2:p.Trp224Ter
NM_130850.5:c.671G>A NP_570911.2:p.Trp224Ter
NM_130851.2:c.671G>A NP_570912.2:p.Trp224Ter
NM_130851.3:c.671G>A NP_570912.2:p.Trp224Ter
NM_130851.4:c.671G>A NP_570912.2:p.Trp224Ter
ENST00000245451.8:c.671G>A ENSP00000245451.4:p.Trp224Ter
ENST00000417573.5:c.671G>A ENSP00000394165.1:p.Trp224Ter
ENST00000558984.1:c.671G>A ENSP00000454134.1:p.Trp224Ter
ENST00000559087.5:c.671G>A ENSP00000453485.1:p.Trp224Ter
ENST00000559501.1:c.482G>A ENSP00000453365.1:p.Trp161Ter
XM_005268015.3:c.671G>A XP_005268072.1:p.Trp224Ter