Canonical Allele Identifier: CA384908459

Gene: ACVR1B

Linked Data

• gnomAD v4: 12-51987145-G-T
• MyVariant Identifiers: chr12:g.52380929G>T (hg19) ; chr12:g.51987145G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51987145G>T , CM000674.2:g.51987145G>T	GRCh38
NC_000012.11:g.52380929G>T , CM000674.1:g.52380929G>T	GRCh37
NC_000012.10:g.50667196G>T	NCBI36
NG_022926.1:g.40479G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257963.9:c.1261+203G>T MANE Select	ENSP00000257963.4:n.1261+203G>T
ENST00000257963.8:c.1261+203G>T	ENSP00000257963.4:n.1261+203G>T
ENST00000415850.6:c.1464G>T	ENSP00000397550.2:p.Ter488Tyr
ENST00000426655.6:c.1261+203G>T	ENSP00000390477.2:n.1261+203G>T
ENST00000541224.5:c.1384+203G>T	ENSP00000442656.1:n.1384+203G>T
ENST00000542485.1:c.1105+203G>T	ENSP00000442885.1:n.1105+203G>T
ENST00000563121.1:n.289+1797G>T
NM_004302.4:c.1261+203G>T	NP_004293.1:n.1261+203G>T
NM_020327.3:c.1105+203G>T	NP_064732.3:n.1105+203G>T
NM_020328.3:c.1384+203G>T	NP_064733.3:n.1384+203G>T
XM_011538966.1:c.1259+1797G>T	XP_011537268.1:n.1259+1797G>T
XM_011538966.3:c.1259+1797G>T	XP_011537268.1:n.1259+1797G>T
XM_017020201.2:c.1136+1797G>T	XP_016875690.1:n.1136+1797G>T
NM_004302.5:c.1261+203G>T MANE Select	NP_004293.1:n.1261+203G>T
NM_020328.4:c.1384+203G>T	NP_064733.3:n.1384+203G>T
NM_020327.4:c.1105+203G>T	NP_064732.3:n.1105+203G>T