Canonical Allele Identifier: CA689769718
Gene: ACVR1B HGNC NCBI

Linked Data

dbSNP Id: rs1323305733

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51955365C>A , CM000674.2:g.51955365C>A GRCh38
NC_000012.11:g.52349149C>A , CM000674.1:g.52349149C>A GRCh37
NC_000012.10:g.50635416C>A NCBI36
NG_022926.1:g.8699C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000257963.9:c.91+3531C>A MANE Select ENSP00000257963.4:n.91+3531C>A
ENST00000257963.8:c.91+3531C>A ENSP00000257963.4:n.91+3531C>A
ENST00000415850.6:c.91+3531C>A ENSP00000397550.2:n.91+3531C>A
ENST00000426655.6:c.91+3531C>A ENSP00000390477.2:n.91+3531C>A
ENST00000536420.5:c.-198+3531C>A ENSP00000443218.1:n.-198+3531C>A
ENST00000541224.5:c.91+3531C>A ENSP00000442656.1:n.91+3531C>A
ENST00000542485.1:c.-66+1866C>A ENSP00000442885.1:n.-66+1866C>A
NM_004302.4:c.91+3531C>A NP_004293.1:n.91+3531C>A
NM_020327.3:c.-66+1866C>A NP_064732.3:n.-66+1866C>A
NM_020328.3:c.91+3531C>A NP_064733.3:n.91+3531C>A
XM_011538966.1:c.91+3531C>A XP_011537268.1:n.91+3531C>A
XM_011538967.1:c.91+3531C>A XP_011537269.1:n.91+3531C>A
XM_011538966.3:c.91+3531C>A XP_011537268.1:n.91+3531C>A
XM_011538967.3:c.91+3531C>A XP_011537269.1:n.91+3531C>A
XM_017020201.2:c.91+3531C>A XP_016875690.1:n.91+3531C>A
NM_004302.5:c.91+3531C>A MANE Select NP_004293.1:n.91+3531C>A
NM_020328.4:c.91+3531C>A NP_064733.3:n.91+3531C>A
NM_020327.4:c.-66+1866C>A NP_064732.3:n.-66+1866C>A