Canonical Allele Identifier: CA6572755

Gene: ACVRL1

Linked Data

• dbSNP Id: rs532801800
• ExAC: 12:52306170 A / G
• gnomAD v2: 12-52306170-A-G
• gnomAD v3: 12-51912386-A-G
• gnomAD v4: 12-51912386-A-G
• MyVariant Identifiers: chr12:g.52306170A>G (hg19) ; chr12:g.51912386A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912386A>G , CM000674.2:g.51912386A>G	GRCh38
NC_000012.11:g.52306170A>G , CM000674.1:g.52306170A>G	GRCh37
NC_000012.10:g.50592437A>G	NCBI36
NG_009549.1:g.9969A>G , LRG_543:g.9969A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-47A>G	ENSP00000446724.2:n.-47A>G
ENST00000551576.6:c.-5-84A>G	ENSP00000455848.2:n.-5-84A>G
ENST00000552678.2:c.-5-84A>G	ENSP00000457394.2:n.-5-84A>G
ENST00000388922.9:c.-5-84A>G MANE Select	ENSP00000373574.4:n.-5-84A>G
ENST00000388922.8:c.-5-84A>G	ENSP00000373574.4:n.-5-84A>G
ENST00000419526.6:c.-47A>G	ENSP00000392492.2:n.-47A>G
ENST00000547400.5:c.-47A>G	ENSP00000446724.1:n.-47A>G
ENST00000550683.5:c.-47A>G	ENSP00000447884.1:n.-47A>G
ENST00000551576.5:c.-5-84A>G	ENSP00000455848.1:n.-5-84A>G
NM_000020.2:c.-5-84A>G , LRG_543t1:c.-5-84A>G	NP_000011.2:n.-5-84A>G
NM_001077401.1:c.-89A>G	NP_001070869.1:n.-89A>G
XM_005269235.2:c.-5-84A>G	XP_005269292.1:n.-5-84A>G
XM_011539008.1:c.-47A>G	XP_011537310.1:n.-47A>G
NM_000020.3:c.-5-84A>G MANE Select	NP_000011.2:n.-5-84A>G
NM_001077401.2:c.-89A>G	NP_001070869.1:n.-89A>G