Canonical Allele Identifier: CA377455119
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2603362
ClinVar RCV Id: RCV003354569

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86912365G>T , CM000672.2:g.86912365G>T GRCh38
NC_000010.10:g.88672122G>T , CM000672.1:g.88672122G>T GRCh37
NC_000010.9:g.88662102G>T NCBI36
NG_009362.1:g.160727G>T , LRG_298:g.160727G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.656G>T ENSP00000483569.2:p.Gly219Val
ENST00000635816.2:c.656G>T ENSP00000489707.1:p.Gly219Val
ENST00000636056.2:c.656G>T ENSP00000490273.1:p.Gly219Val
ENST00000372037.8:c.656G>T MANE Select ENSP00000361107.2:p.Gly219Val
ENST00000635816.1:c.656G>T ENSP00000489707.1:p.Gly219Val
ENST00000636056.1:c.656G>T ENSP00000490273.1:p.Gly219Val
ENST00000638429.1:c.656G>T ENSP00000492290.1:p.Gly219Val
ENST00000372037.7:c.656G>T ENSP00000361107.1:p.Gly219Val
NM_004329.2:c.656G>T , LRG_298t1:c.656G>T NP_004320.2:p.Gly219Val
XM_011540103.1:c.656G>T XP_011538405.1:p.Gly219Val
XM_011540104.1:c.656G>T XP_011538406.1:p.Gly219Val
XM_011540103.2:c.656G>T XP_011538405.1:p.Gly219Val
XM_011540104.2:c.656G>T XP_011538406.1:p.Gly219Val
NM_004329.3:c.656G>T MANE Select NP_004320.2:p.Gly219Val