Canonical Allele Identifier: CA2036281355
Community Standard Title: NM_004302.5(ACVR1B):c.1261+300C=
Gene: ACVR1B HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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