Canonical Allele Identifier: CA236352352

Gene: ACVR1B

Linked Data

• dbSNP Id: rs887290840
• gnomAD v2: 12-52380942-T-C
• gnomAD v3: 12-51987158-T-C
• gnomAD v4: 12-51987158-T-C
• MyVariant Identifiers: chr12:g.52380942T>C (hg19) ; chr12:g.51987158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51987158T>C , CM000674.2:g.51987158T>C	GRCh38
NC_000012.11:g.52380942T>C , CM000674.1:g.52380942T>C	GRCh37
NC_000012.10:g.50667209T>C	NCBI36
NG_022926.1:g.40492T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000257963.9:c.1261+216T>C MANE Select	ENSP00000257963.4:n.1261+216T>C
ENST00000257963.8:c.1261+216T>C	ENSP00000257963.4:n.1261+216T>C
ENST00000415850.6:c.1477T>C	ENSP00000397550.2:n.1477T>C
ENST00000426655.6:c.1261+216T>C	ENSP00000390477.2:n.1261+216T>C
ENST00000541224.5:c.1384+216T>C	ENSP00000442656.1:n.1384+216T>C
ENST00000542485.1:c.1105+216T>C	ENSP00000442885.1:n.1105+216T>C
ENST00000563121.1:n.289+1810T>C
NM_004302.4:c.1261+216T>C	NP_004293.1:n.1261+216T>C
NM_020327.3:c.1105+216T>C	NP_064732.3:n.1105+216T>C
NM_020328.3:c.1384+216T>C	NP_064733.3:n.1384+216T>C
XM_011538966.1:c.1259+1810T>C	XP_011537268.1:n.1259+1810T>C
XM_011538966.3:c.1259+1810T>C	XP_011537268.1:n.1259+1810T>C
XM_017020201.2:c.1136+1810T>C	XP_016875690.1:n.1136+1810T>C
NM_004302.5:c.1261+216T>C MANE Select	NP_004293.1:n.1261+216T>C
NM_020328.4:c.1384+216T>C	NP_064733.3:n.1384+216T>C
NM_020327.4:c.1105+216T>C	NP_064732.3:n.1105+216T>C