Canonical Allele Identifier: CA298508
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 182065
dbSNP Id: rs730881431

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86892158G>T , CM000672.2:g.86892158G>T GRCh38
NC_000010.10:g.88651915G>T , CM000672.1:g.88651915G>T GRCh37
NC_000010.9:g.88641895G>T NCBI36
NG_009362.1:g.140520G>T , LRG_298:g.140520G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.262G>T ENSP00000483569.2:p.Glu88Ter
ENST00000635816.2:c.262G>T ENSP00000489707.1:p.Glu88Ter
ENST00000636056.2:c.262G>T ENSP00000490273.1:p.Glu88Ter
ENST00000372037.8:c.262G>T MANE Select ENSP00000361107.2:p.Glu88Ter
ENST00000635816.1:c.262G>T ENSP00000489707.1:p.Glu88Ter
ENST00000636056.1:c.262G>T ENSP00000490273.1:p.Glu88Ter
ENST00000638429.1:c.262G>T ENSP00000492290.1:p.Glu88Ter
ENST00000372037.7:c.262G>T ENSP00000361107.1:p.Glu88Ter
NM_004329.2:c.262G>T , LRG_298t1:c.262G>T NP_004320.2:p.Glu88Ter
XM_011540103.1:c.262G>T XP_011538405.1:p.Glu88Ter
XM_011540104.1:c.262G>T XP_011538406.1:p.Glu88Ter
XM_011540103.2:c.262G>T XP_011538405.1:p.Glu88Ter
XM_011540104.2:c.262G>T XP_011538406.1:p.Glu88Ter
NM_004329.3:c.262G>T MANE Select NP_004320.2:p.Glu88Ter