Canonical Allele Identifier: CA13667486

Gene: ACVR1B

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51987242C>A , CM000674.2:g.51987242C>A	GRCh38
NC_000012.11:g.52381026C>A , CM000674.1:g.52381026C>A	GRCh37
NC_000012.10:g.50667293C>A	NCBI36
NG_022926.1:g.40576C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.1261+300C>A MANE Select	ENSP00000257963.4:n.1261+300C>A
ENST00000257963.8:c.1261+300C>A	ENSP00000257963.4:n.1261+300C>A
ENST00000415850.6:c.1561C>A	ENSP00000397550.2:n.1561C>A
ENST00000426655.6:c.1261+300C>A	ENSP00000390477.2:n.1261+300C>A
ENST00000541224.5:c.1384+300C>A	ENSP00000442656.1:n.1384+300C>A
ENST00000542485.1:c.1105+300C>A	ENSP00000442885.1:n.1105+300C>A
ENST00000563121.1:n.289+1894C>A
NM_004302.4:c.1261+300C>A	NP_004293.1:n.1261+300C>A
NM_020327.3:c.1105+300C>A	NP_064732.3:n.1105+300C>A
NM_020328.3:c.1384+300C>A	NP_064733.3:n.1384+300C>A
XM_011538966.1:c.1259+1894C>A	XP_011537268.1:n.1259+1894C>A
XM_011538966.3:c.1259+1894C>A	XP_011537268.1:n.1259+1894C>A
XM_017020201.2:c.1136+1894C>A	XP_016875690.1:n.1136+1894C>A
NM_004302.5:c.1261+300C>A MANE Select	NP_004293.1:n.1261+300C>A
NM_020328.4:c.1384+300C>A	NP_064733.3:n.1384+300C>A
NM_020327.4:c.1105+300C>A	NP_064732.3:n.1105+300C>A