Canonical Allele Identifier: CA6573507

Gene: ACVR1B

Linked Data

• dbSNP Id: rs771823761
• ExAC: 12:52380959 G / C
• gnomAD v2: 12-52380959-G-C
• gnomAD v3: 12-51987175-G-C
• gnomAD v4: 12-51987175-G-C
• MyVariant Identifiers: chr12:g.52380959G>C (hg19) ; chr12:g.51987175G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51987175G>C , CM000674.2:g.51987175G>C	GRCh38
NC_000012.11:g.52380959G>C , CM000674.1:g.52380959G>C	GRCh37
NC_000012.10:g.50667226G>C	NCBI36
NG_022926.1:g.40509G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.1261+233G>C MANE Select	ENSP00000257963.4:n.1261+233G>C
ENST00000257963.8:c.1261+233G>C	ENSP00000257963.4:n.1261+233G>C
ENST00000415850.6:c.1494G>C	ENSP00000397550.2:n.1494G>C
ENST00000426655.6:c.1261+233G>C	ENSP00000390477.2:n.1261+233G>C
ENST00000541224.5:c.1384+233G>C	ENSP00000442656.1:n.1384+233G>C
ENST00000542485.1:c.1105+233G>C	ENSP00000442885.1:n.1105+233G>C
ENST00000563121.1:n.289+1827G>C
NM_004302.4:c.1261+233G>C	NP_004293.1:n.1261+233G>C
NM_020327.3:c.1105+233G>C	NP_064732.3:n.1105+233G>C
NM_020328.3:c.1384+233G>C	NP_064733.3:n.1384+233G>C
XM_011538966.1:c.1259+1827G>C	XP_011537268.1:n.1259+1827G>C
XM_011538966.3:c.1259+1827G>C	XP_011537268.1:n.1259+1827G>C
XM_017020201.2:c.1136+1827G>C	XP_016875690.1:n.1136+1827G>C
NM_004302.5:c.1261+233G>C MANE Select	NP_004293.1:n.1261+233G>C
NM_020328.4:c.1384+233G>C	NP_064733.3:n.1384+233G>C
NM_020327.4:c.1105+233G>C	NP_064732.3:n.1105+233G>C