Canonical Allele Identifier: CA236335577

Gene: ACVR1B

Linked Data

• dbSNP Id: rs969852095
• gnomAD v3: 12-51954846-T-A
• gnomAD v4: 12-51954846-T-A
• MyVariant Identifiers: chr12:g.52348630T>A (hg19) ; chr12:g.51954846T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51954846T>A , CM000674.2:g.51954846T>A	GRCh38
NC_000012.11:g.52348630T>A , CM000674.1:g.52348630T>A	GRCh37
NC_000012.10:g.50634897T>A	NCBI36
NG_022926.1:g.8180T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.91+3012T>A MANE Select	ENSP00000257963.4:n.91+3012T>A
ENST00000257963.8:c.91+3012T>A	ENSP00000257963.4:n.91+3012T>A
ENST00000415850.6:c.91+3012T>A	ENSP00000397550.2:n.91+3012T>A
ENST00000426655.6:c.91+3012T>A	ENSP00000390477.2:n.91+3012T>A
ENST00000536420.5:c.-198+3012T>A	ENSP00000443218.1:n.-198+3012T>A
ENST00000541224.5:c.91+3012T>A	ENSP00000442656.1:n.91+3012T>A
ENST00000542485.1:c.-66+1347T>A	ENSP00000442885.1:n.-66+1347T>A
NM_004302.4:c.91+3012T>A	NP_004293.1:n.91+3012T>A
NM_020327.3:c.-66+1347T>A	NP_064732.3:n.-66+1347T>A
NM_020328.3:c.91+3012T>A	NP_064733.3:n.91+3012T>A
XM_011538966.1:c.91+3012T>A	XP_011537268.1:n.91+3012T>A
XM_011538967.1:c.91+3012T>A	XP_011537269.1:n.91+3012T>A
XM_011538966.3:c.91+3012T>A	XP_011537268.1:n.91+3012T>A
XM_011538967.3:c.91+3012T>A	XP_011537269.1:n.91+3012T>A
XM_017020201.2:c.91+3012T>A	XP_016875690.1:n.91+3012T>A
NM_004302.5:c.91+3012T>A MANE Select	NP_004293.1:n.91+3012T>A
NM_020328.4:c.91+3012T>A	NP_064733.3:n.91+3012T>A
NM_020327.4:c.-66+1347T>A	NP_064732.3:n.-66+1347T>A