Canonical Allele Identifier: CA947672481
Gene: ACVR1B HGNC NCBI

Linked Data

dbSNP Id: rs1941557633

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51962651T>C , CM000674.2:g.51962651T>C GRCh38
NC_000012.11:g.52356435T>C , CM000674.1:g.52356435T>C GRCh37
NC_000012.10:g.50642702T>C NCBI36
NG_022926.1:g.15985T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000257963.9:c.91+10817T>C MANE Select ENSP00000257963.4:n.91+10817T>C
ENST00000257963.8:c.91+10817T>C ENSP00000257963.4:n.91+10817T>C
ENST00000415850.6:c.91+10817T>C ENSP00000397550.2:n.91+10817T>C
ENST00000426655.6:c.91+10817T>C ENSP00000390477.2:n.91+10817T>C
ENST00000536420.5:c.-66+2464T>C ENSP00000443218.1:n.-66+2464T>C
ENST00000541224.5:c.91+10817T>C ENSP00000442656.1:n.91+10817T>C
ENST00000542485.1:c.-66+9152T>C ENSP00000442885.1:n.-66+9152T>C
NM_004302.4:c.91+10817T>C NP_004293.1:n.91+10817T>C
NM_020327.3:c.-66+9152T>C NP_064732.3:n.-66+9152T>C
NM_020328.3:c.91+10817T>C NP_064733.3:n.91+10817T>C
XM_011538966.1:c.91+10817T>C XP_011537268.1:n.91+10817T>C
XM_011538967.1:c.91+10817T>C XP_011537269.1:n.91+10817T>C
XM_011538966.3:c.91+10817T>C XP_011537268.1:n.91+10817T>C
XM_011538967.3:c.91+10817T>C XP_011537269.1:n.91+10817T>C
XM_017020201.2:c.91+10817T>C XP_016875690.1:n.91+10817T>C
NM_004302.5:c.91+10817T>C MANE Select NP_004293.1:n.91+10817T>C
NM_020328.4:c.91+10817T>C NP_064733.3:n.91+10817T>C
NM_020327.4:c.-66+9152T>C NP_064732.3:n.-66+9152T>C