Canonical Allele Identifier: CA211232851

Gene: BMPR1A

Linked Data

• dbSNP Id: rs970941581
• gnomAD v2: 10-88602247-G-A
• gnomAD v3: 10-86842490-G-A
• gnomAD v4: 10-86842490-G-A
• MyVariant Identifiers: chr10:g.88602247G>A (hg19) ; chr10:g.86842490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86842490G>A , CM000672.2:g.86842490G>A	GRCh38
NC_000010.10:g.88602247G>A , CM000672.1:g.88602247G>A	GRCh37
NC_000010.9:g.88592227G>A	NCBI36
NG_009362.1:g.90852G>A , LRG_298:g.90852G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.-257-916G>A	ENSP00000483569.2:n.-257-916G>A
ENST00000635816.2:c.-153+3511G>A	ENSP00000489707.1:n.-153+3511G>A
ENST00000636056.2:c.-153+3511G>A	ENSP00000490273.1:n.-153+3511G>A
ENST00000372037.8:c.-153+3511G>A MANE Select	ENSP00000361107.2:n.-153+3511G>A
ENST00000635816.1:c.-153+3511G>A	ENSP00000489707.1:n.-153+3511G>A
ENST00000636056.1:c.-153+3511G>A	ENSP00000490273.1:n.-153+3511G>A
ENST00000638429.1:c.-153+3511G>A	ENSP00000492290.1:n.-153+3511G>A
ENST00000372037.7:c.-153+3511G>A	ENSP00000361107.1:n.-153+3511G>A
ENST00000480152.2:c.-257-916G>A	ENSP00000483569.1:n.-257-916G>A
NM_004329.2:c.-153+3511G>A , LRG_298t1:c.-153+3511G>A	NP_004320.2:n.-153+3511G>A
XM_011540103.1:c.-153+3511G>A	XP_011538405.1:n.-153+3511G>A
XM_011540104.1:c.-257-916G>A	XP_011538406.1:n.-257-916G>A
XM_011540103.2:c.-153+3511G>A	XP_011538405.1:n.-153+3511G>A
XM_011540104.2:c.-257-916G>A	XP_011538406.1:n.-257-916G>A
NM_004329.3:c.-153+3511G>A MANE Select	NP_004320.2:n.-153+3511G>A