Canonical Allele Identifier: CA16042120
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 371995
dbSNP Id: rs1057517610

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86890164C>G , CM000672.2:g.86890164C>G GRCh38
NC_000010.10:g.88649921C>G , CM000672.1:g.88649921C>G GRCh37
NC_000010.9:g.88639901C>G NCBI36
NG_009362.1:g.138526C>G , LRG_298:g.138526C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372037.8:c.170C>G MANE Select ENSP00000361107.2:p.Pro57Arg
ENST00000635816.1:c.170C>G ENSP00000489707.1:p.Pro57Arg
ENST00000636056.1:c.170C>G ENSP00000490273.1:p.Pro57Arg
ENST00000638429.1:c.170C>G ENSP00000492290.1:p.Pro57Arg
ENST00000372037.7:c.170C>G ENSP00000361107.1:p.Pro57Arg
NM_004329.2:c.170C>G , LRG_298t1:c.170C>G NP_004320.2:p.Pro57Arg
XM_011540103.1:c.170C>G XP_011538405.1:p.Pro57Arg
XM_011540104.1:c.170C>G XP_011538406.1:p.Pro57Arg
XM_011540103.2:c.170C>G XP_011538405.1:p.Pro57Arg
XM_011540104.2:c.170C>G XP_011538406.1:p.Pro57Arg
NM_004329.3:c.170C>G MANE Select NP_004320.2:p.Pro57Arg