Canonical Allele Identifier: CA1925653080

Gene: BMPR1A

Linked Data

• dbSNP Id: rs1847877235
• gnomAD v3: 10-86756846-C-T
• gnomAD v4: 10-86756846-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86756846C>T , CM000672.2:g.86756846C>T	GRCh38
NC_000010.10:g.88516603C>T , CM000672.1:g.88516603C>T	GRCh37
NC_000010.9:g.88506583C>T	NCBI36
NG_009362.1:g.5208C>T , LRG_298:g.5208C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.-446C>T	ENSP00000483569.2:n.-446C>T
ENST00000635816.2:c.-341C>T	ENSP00000489707.1:n.-341C>T
ENST00000636056.2:c.-341C>T	ENSP00000490273.1:n.-341C>T
ENST00000372037.8:c.-341C>T MANE Select	ENSP00000361107.2:n.-341C>T
ENST00000638429.1:c.-341C>T	ENSP00000492290.1:n.-341C>T
ENST00000372037.7:c.-341C>T	ENSP00000361107.1:n.-341C>T
NM_004329.2:c.-341C>T , LRG_298t1:c.-341C>T	NP_004320.2:n.-341C>T
XM_011540103.1:c.-268+883C>T	XP_011538405.1:n.-268+883C>T
XM_011540104.1:c.-446C>T	XP_011538406.1:n.-446C>T
XM_011540103.2:c.-268+883C>T	XP_011538405.1:n.-268+883C>T
XM_011540104.2:c.-446C>T	XP_011538406.1:n.-446C>T
NM_004329.3:c.-341C>T MANE Select	NP_004320.2:n.-341C>T