Canonical Allele Identifier: CA5585466

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 1130360
• ClinVar RCV Id: RCV001463824
• dbSNP Id: rs753250496
• ExAC: 10:88651920 T / C
• gnomAD v2: 10-88651920-T-C
• gnomAD v4: 10-86892163-T-C
• MyVariant Identifiers: chr10:g.88651920T>C (hg19) ; chr10:g.86892163T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86892163T>C , CM000672.2:g.86892163T>C	GRCh38
NC_000010.10:g.88651920T>C , CM000672.1:g.88651920T>C	GRCh37
NC_000010.9:g.88641900T>C	NCBI36
NG_009362.1:g.140525T>C , LRG_298:g.140525T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.267T>C	ENSP00000483569.2:p.Asp89=
ENST00000635816.2:c.267T>C	ENSP00000489707.1:p.Asp89=
ENST00000636056.2:c.267T>C	ENSP00000490273.1:p.Asp89=
ENST00000372037.8:c.267T>C MANE Select	ENSP00000361107.2:p.Asp89=
ENST00000635816.1:c.267T>C	ENSP00000489707.1:p.Asp89=
ENST00000636056.1:c.267T>C	ENSP00000490273.1:p.Asp89=
ENST00000638429.1:c.267T>C	ENSP00000492290.1:p.Asp89=
ENST00000372037.7:c.267T>C	ENSP00000361107.1:p.Asp89=
NM_004329.2:c.267T>C , LRG_298t1:c.267T>C	NP_004320.2:p.Asp89=
XM_011540103.1:c.267T>C	XP_011538405.1:p.Asp89=
XM_011540104.1:c.267T>C	XP_011538406.1:p.Asp89=
XM_011540103.2:c.267T>C	XP_011538405.1:p.Asp89=
XM_011540104.2:c.267T>C	XP_011538406.1:p.Asp89=
NM_004329.3:c.267T>C MANE Select	NP_004320.2:p.Asp89=