Canonical Allele Identifier: CA236335694

Gene: ACVR1B

Linked Data

• dbSNP Id: rs1021235848
• MyVariant Identifiers: chr12:g.51955224A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51955224A>T , CM000674.2:g.51955224A>T	GRCh38
NC_000012.11:g.52349008A>T , CM000674.1:g.52349008A>T	GRCh37
NC_000012.10:g.50635275A>T	NCBI36
NG_022926.1:g.8558A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257963.9:c.91+3390A>T MANE Select	ENSP00000257963.4:n.91+3390A>T
ENST00000257963.8:c.91+3390A>T	ENSP00000257963.4:n.91+3390A>T
ENST00000415850.6:c.91+3390A>T	ENSP00000397550.2:n.91+3390A>T
ENST00000426655.6:c.91+3390A>T	ENSP00000390477.2:n.91+3390A>T
ENST00000536420.5:c.-198+3390A>T	ENSP00000443218.1:n.-198+3390A>T
ENST00000541224.5:c.91+3390A>T	ENSP00000442656.1:n.91+3390A>T
ENST00000542485.1:c.-66+1725A>T	ENSP00000442885.1:n.-66+1725A>T
NM_004302.4:c.91+3390A>T	NP_004293.1:n.91+3390A>T
NM_020327.3:c.-66+1725A>T	NP_064732.3:n.-66+1725A>T
NM_020328.3:c.91+3390A>T	NP_064733.3:n.91+3390A>T
XM_011538966.1:c.91+3390A>T	XP_011537268.1:n.91+3390A>T
XM_011538967.1:c.91+3390A>T	XP_011537269.1:n.91+3390A>T
XM_011538966.3:c.91+3390A>T	XP_011537268.1:n.91+3390A>T
XM_011538967.3:c.91+3390A>T	XP_011537269.1:n.91+3390A>T
XM_017020201.2:c.91+3390A>T	XP_016875690.1:n.91+3390A>T
NM_004302.5:c.91+3390A>T MANE Select	NP_004293.1:n.91+3390A>T
NM_020328.4:c.91+3390A>T	NP_064733.3:n.91+3390A>T
NM_020327.4:c.-66+1725A>T	NP_064732.3:n.-66+1725A>T