Canonical Allele Identifier: CA377774739
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 429102
ClinVar RCV Id: RCV000492794
dbSNP Id: rs786203157

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86876019A>C , CM000672.2:g.86876019A>C GRCh38
NC_000010.10:g.88635776A>C , CM000672.1:g.88635776A>C GRCh37
NC_000010.9:g.88625756A>C NCBI36
NG_009362.1:g.124381A>C , LRG_298:g.124381A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.1A>C ENSP00000483569.2:p.Met1Leu
ENST00000635816.2:c.1A>C ENSP00000489707.1:p.Met1Leu
ENST00000636056.2:c.1A>C ENSP00000490273.1:p.Met1Leu
ENST00000372037.8:c.1A>C MANE Select ENSP00000361107.2:p.Met1Leu
ENST00000635816.1:c.1A>C ENSP00000489707.1:p.Met1Leu
ENST00000636056.1:c.1A>C ENSP00000490273.1:p.Met1Leu
ENST00000638429.1:c.1A>C ENSP00000492290.1:p.Met1Leu
ENST00000372037.7:c.1A>C ENSP00000361107.1:p.Met1Leu
ENST00000480152.2:c.1A>C ENSP00000483569.1:p.Met1Leu
NM_004329.2:c.1A>C , LRG_298t1:c.1A>C NP_004320.2:p.Met1Leu
XM_011540103.1:c.1A>C XP_011538405.1:p.Met1Leu
XM_011540104.1:c.1A>C XP_011538406.1:p.Met1Leu
XM_011540103.2:c.1A>C XP_011538405.1:p.Met1Leu
XM_011540104.2:c.1A>C XP_011538406.1:p.Met1Leu
NM_004329.3:c.1A>C MANE Select NP_004320.2:p.Met1Leu