Canonical Allele Identifier: CA3015054

Gene: BMPR1B

Linked Data

• ClinVar Variation Id: 350117
• ClinVar RCV Id: RCV000386085 ; RCV001235116 ; RCV003226923 ; RCV003950237
• dbSNP Id: rs35973133
• ExAC: 4:96051098 G / A
• gnomAD v2: 4-96051098-G-A
• gnomAD v3: 4-95129947-G-A
• gnomAD v4: 4-95129947-G-A
• COSMIC: COSM248730 ; COSM248731
• MyVariant Identifiers: chr4:g.96051098G>A (hg19) ; chr4:g.95129947G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.95129947G>A , CM000666.2:g.95129947G>A	GRCh38
NC_000004.11:g.96051098G>A , CM000666.1:g.96051098G>A	GRCh37
NC_000004.10:g.96270121G>A	NCBI36
NG_009245.1:g.376971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440890.7:c.761G>A	ENSP00000401907.2:p.Arg254His
ENST00000509540.6:c.671G>A	ENSP00000421671.1:p.Arg224His
ENST00000515059.6:c.671G>A MANE Select	ENSP00000426617.1:p.Arg224His
ENST00000672698.1:c.671G>A	ENSP00000500035.1:p.Arg224His
ENST00000264568.8:c.671G>A	ENSP00000264568.4:p.Arg224His
ENST00000394931.1:c.671G>A	ENSP00000378389.1:p.Arg224His
ENST00000440890.6:c.761G>A	ENSP00000401907.2:p.Arg254His
ENST00000509540.5:c.671G>A	ENSP00000421671.1:p.Arg224His
ENST00000512312.5:c.671G>A	ENSP00000425444.1:p.Arg224His
ENST00000515059.5:c.671G>A	ENSP00000426617.1:p.Arg224His
NM_001203.2:c.671G>A	NP_001194.1:p.Arg224His
NM_001256792.1:c.671G>A	NP_001243721.1:p.Arg224His
NM_001256793.1:c.761G>A	NP_001243722.1:p.Arg254His
NM_001256794.1:c.671G>A	NP_001243723.1:p.Arg224His
XM_011532201.1:c.671G>A	XP_011530503.1:p.Arg224His
XM_011532202.1:c.671G>A	XP_011530504.1:p.Arg224His
XM_011532201.2:c.671G>A	XP_011530503.1:p.Arg224His
XM_017008558.1:c.671G>A	XP_016864047.1:p.Arg224His
XM_017008559.1:c.671G>A	XP_016864048.1:p.Arg224His
XM_017008560.1:c.671G>A	XP_016864049.1:p.Arg224His
XM_017008561.1:c.671G>A	XP_016864050.1:p.Arg224His
NM_001203.3:c.671G>A MANE Select	NP_001194.1:p.Arg224His
NM_001256793.2:c.761G>A	NP_001243722.1:p.Arg254His
NM_001256792.2:c.671G>A	NP_001243721.1:p.Arg224His