Canonical Allele Identifier: CA13667486
Gene: ACVR1B HGNC NCBI

Linked Data

dbSNP Id: rs2252518

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