Canonical Allele Identifier: CA6573509

Gene: ACVR1B

Linked Data

• dbSNP Id: rs759612884
• ExAC: 12:52380971 T / G
• gnomAD v3: 12-51987187-T-G
• gnomAD v4: 12-51987187-T-G
• MyVariant Identifiers: chr12:g.52380971T>G (hg19) ; chr12:g.51987187T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51987187T>G , CM000674.2:g.51987187T>G	GRCh38
NC_000012.11:g.52380971T>G , CM000674.1:g.52380971T>G	GRCh37
NC_000012.10:g.50667238T>G	NCBI36
NG_022926.1:g.40521T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257963.9:c.1261+245T>G MANE Select	ENSP00000257963.4:n.1261+245T>G
ENST00000257963.8:c.1261+245T>G	ENSP00000257963.4:n.1261+245T>G
ENST00000415850.6:c.1506T>G	ENSP00000397550.2:n.1506T>G
ENST00000426655.6:c.1261+245T>G	ENSP00000390477.2:n.1261+245T>G
ENST00000541224.5:c.1384+245T>G	ENSP00000442656.1:n.1384+245T>G
ENST00000542485.1:c.1105+245T>G	ENSP00000442885.1:n.1105+245T>G
ENST00000563121.1:n.289+1839T>G
NM_004302.4:c.1261+245T>G	NP_004293.1:n.1261+245T>G
NM_020327.3:c.1105+245T>G	NP_064732.3:n.1105+245T>G
NM_020328.3:c.1384+245T>G	NP_064733.3:n.1384+245T>G
XM_011538966.1:c.1259+1839T>G	XP_011537268.1:n.1259+1839T>G
XM_011538966.3:c.1259+1839T>G	XP_011537268.1:n.1259+1839T>G
XM_017020201.2:c.1136+1839T>G	XP_016875690.1:n.1136+1839T>G
NM_004302.5:c.1261+245T>G MANE Select	NP_004293.1:n.1261+245T>G
NM_020328.4:c.1384+245T>G	NP_064733.3:n.1384+245T>G
NM_020327.4:c.1105+245T>G	NP_064732.3:n.1105+245T>G