Canonical Allele Identifier: CA10641805

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 309445
• ClinVar RCV Id: RCV000507582 ; RCV001566407
• dbSNP Id: rs182368657
• gnomAD v2: 12-52314735-G-A
• gnomAD v3: 12-51920951-G-A
• gnomAD v4: 12-51920951-G-A
• MyVariant Identifiers: chr12:g.52314735G>A (hg19) ; chr12:g.51920951G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920951G>A , CM000674.2:g.51920951G>A	GRCh38
NC_000012.11:g.52314735G>A , CM000674.1:g.52314735G>A	GRCh37
NC_000012.10:g.50601002G>A	NCBI36
NG_009549.1:g.18534G>A , LRG_543:g.18534G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*58G>A	ENSP00000455848.2:n.*58G>A
ENST00000388922.9:c.*58G>A MANE Select	ENSP00000373574.4:n.*58G>A
ENST00000388922.8:c.*58G>A	ENSP00000373574.4:n.*58G>A
ENST00000419526.6:c.*58G>A	ENSP00000392492.2:n.*58G>A
ENST00000550683.5:c.*58G>A	ENSP00000447884.1:n.*58G>A
NM_000020.2:c.*58G>A , LRG_543t1:c.*58G>A	NP_000011.2:n.*58G>A
NM_001077401.1:c.*58G>A	NP_001070869.1:n.*58G>A
XM_005269235.2:c.*58G>A	XP_005269292.1:n.*58G>A
XM_011539008.1:c.*58G>A	XP_011537310.1:n.*58G>A
XM_024449279.1:c.*58G>A	XP_024305047.1:n.*58G>A
NM_000020.3:c.*58G>A MANE Select	NP_000011.2:n.*58G>A
NM_001077401.2:c.*58G>A	NP_001070869.1:n.*58G>A