Canonical Allele Identifier: CA689786245

Gene: ACVR1B

Linked Data

• dbSNP Id: rs1222432639
• gnomAD v4: 12-51987276-A-G
• MyVariant Identifiers: chr12:g.52381060A>G (hg19) ; chr12:g.51987276A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51987276A>G , CM000674.2:g.51987276A>G	GRCh38
NC_000012.11:g.52381060A>G , CM000674.1:g.52381060A>G	GRCh37
NC_000012.10:g.50667327A>G	NCBI36
NG_022926.1:g.40610A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.1261+334A>G MANE Select	ENSP00000257963.4:n.1261+334A>G
ENST00000257963.8:c.1261+334A>G	ENSP00000257963.4:n.1261+334A>G
ENST00000415850.6:c.1595A>G	ENSP00000397550.2:n.1595A>G
ENST00000426655.6:c.1261+334A>G	ENSP00000390477.2:n.1261+334A>G
ENST00000541224.5:c.1384+334A>G	ENSP00000442656.1:n.1384+334A>G
ENST00000542485.1:c.1105+334A>G	ENSP00000442885.1:n.1105+334A>G
ENST00000563121.1:n.289+1928A>G
NM_004302.4:c.1261+334A>G	NP_004293.1:n.1261+334A>G
NM_020327.3:c.1105+334A>G	NP_064732.3:n.1105+334A>G
NM_020328.3:c.1384+334A>G	NP_064733.3:n.1384+334A>G
XM_011538966.1:c.1259+1928A>G	XP_011537268.1:n.1259+1928A>G
XM_011538966.3:c.1259+1928A>G	XP_011537268.1:n.1259+1928A>G
XM_017020201.2:c.1136+1928A>G	XP_016875690.1:n.1136+1928A>G
NM_004302.5:c.1261+334A>G MANE Select	NP_004293.1:n.1261+334A>G
NM_020328.4:c.1384+334A>G	NP_064733.3:n.1384+334A>G
NM_020327.4:c.1105+334A>G	NP_064732.3:n.1105+334A>G