Canonical Allele Identifier: CA2036281215
Gene: ACVR1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51987176C= , CM000674.2:g.51987176C= GRCh38
NC_000012.11:g.52380960C= , CM000674.1:g.52380960C= GRCh37
NC_000012.10:g.50667227C= NCBI36
NG_022926.1:g.40510C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000257963.9:c.1261+234C= MANE Select ENSP00000257963.4:n.1261+234C=
ENST00000257963.8:c.1261+234C= ENSP00000257963.4:n.1261+234C=
ENST00000415850.6:c.1495C= ENSP00000397550.2:n.1495C=
ENST00000426655.6:c.1261+234C= ENSP00000390477.2:n.1261+234C=
ENST00000541224.5:c.1384+234C= ENSP00000442656.1:n.1384+234C=
ENST00000542485.1:c.1105+234C= ENSP00000442885.1:n.1105+234C=
ENST00000563121.1:n.289+1828C=
NM_004302.4:c.1261+234C= NP_004293.1:n.1261+234C=
NM_020327.3:c.1105+234C= NP_064732.3:n.1105+234C=
NM_020328.3:c.1384+234C= NP_064733.3:n.1384+234C=
XM_011538966.1:c.1259+1828C= XP_011537268.1:n.1259+1828C=
XM_011538966.3:c.1259+1828C= XP_011537268.1:n.1259+1828C=
XM_017020201.2:c.1136+1828C= XP_016875690.1:n.1136+1828C=
NM_004302.5:c.1261+234C= MANE Select NP_004293.1:n.1261+234C=
NM_020328.4:c.1384+234C= NP_064733.3:n.1384+234C=
NM_020327.4:c.1105+234C= NP_064732.3:n.1105+234C=