Canonical Allele Identifier: CA605055875

Gene: ACVR1B

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51995107A>C , CM000674.2:g.51995107A>C	GRCh38
NC_000012.11:g.52388891A>C , CM000674.1:g.52388891A>C	GRCh37
NC_000012.10:g.50675158A>C	NCBI36
NG_022926.1:g.48441A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.*997A>C MANE Select	ENSP00000257963.4:n.*997A>C
ENST00000257963.8:c.*997A>C	ENSP00000257963.4:n.*997A>C
NM_004302.4:c.*997A>C	NP_004293.1:n.*997A>C
NM_020327.3:c.*997A>C	NP_064732.3:n.*997A>C
NM_020328.3:c.*997A>C	NP_064733.3:n.*997A>C
NM_004302.5:c.*997A>C MANE Select	NP_004293.1:n.*997A>C
NM_020328.4:c.*997A>C	NP_064733.3:n.*997A>C
NM_020327.4:c.*997A>C	NP_064732.3:n.*997A>C