Canonical Allele Identifier: CA377450578

Gene: BMPR1A

Linked Data

• gnomAD v4: 10-86900098-A-G
• MyVariant Identifiers: chr10:g.88659855A>G (hg19) ; chr10:g.86900098A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86900098A>G , CM000672.2:g.86900098A>G	GRCh38
NC_000010.10:g.88659855A>G , CM000672.1:g.88659855A>G	GRCh37
NC_000010.9:g.88649835A>G	NCBI36
NG_009362.1:g.148460A>G , LRG_298:g.148460A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.502A>G	ENSP00000483569.2:p.Ile168Val
ENST00000635816.2:c.502A>G	ENSP00000489707.1:p.Ile168Val
ENST00000636056.2:c.502A>G	ENSP00000490273.1:p.Ile168Val
ENST00000372037.8:c.502A>G MANE Select	ENSP00000361107.2:p.Ile168Val
ENST00000635816.1:c.502A>G	ENSP00000489707.1:p.Ile168Val
ENST00000636056.1:c.502A>G	ENSP00000490273.1:p.Ile168Val
ENST00000638429.1:c.502A>G	ENSP00000492290.1:p.Ile168Val
ENST00000372037.7:c.502A>G	ENSP00000361107.1:p.Ile168Val
NM_004329.2:c.502A>G , LRG_298t1:c.502A>G	NP_004320.2:p.Ile168Val
XM_011540103.1:c.502A>G	XP_011538405.1:p.Ile168Val
XM_011540104.1:c.502A>G	XP_011538406.1:p.Ile168Val
XM_011540103.2:c.502A>G	XP_011538405.1:p.Ile168Val
XM_011540104.2:c.502A>G	XP_011538406.1:p.Ile168Val
NM_004329.3:c.502A>G MANE Select	NP_004320.2:p.Ile168Val