Canonical Allele Identifier: CA479805271

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 3230332
• ClinVar RCV Id: RCV004520483
• dbSNP Id: rs1940756977
• gnomAD v3: 12-51913743-A-G
• gnomAD v4: 12-51913743-A-G
• MyVariant Identifiers: chr12:g.52307527A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913743A>G , CM000674.2:g.51913743A>G	GRCh38
NC_000012.11:g.52307527A>G , CM000674.1:g.52307527A>G	GRCh37
NC_000012.10:g.50593794A>G	NCBI36
NG_009549.1:g.11326A>G , LRG_543:g.11326A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+393A>G	ENSP00000446724.2:n.355+393A>G
ENST00000551576.6:c.498A>G	ENSP00000455848.2:p.Ala166=
ENST00000552678.2:c.498A>G	ENSP00000457394.2:p.Ala166=
ENST00000388922.9:c.498A>G MANE Select	ENSP00000373574.4:p.Ala166=
ENST00000388922.8:c.498A>G	ENSP00000373574.4:p.Ala166=
ENST00000419526.6:c.104-696A>G	ENSP00000392492.2:n.104-696A>G
ENST00000547400.5:c.355+393A>G	ENSP00000446724.1:n.355+393A>G
ENST00000550683.5:c.540A>G	ENSP00000447884.1:p.Ala180=
NM_000020.2:c.498A>G , LRG_543t1:c.498A>G	NP_000011.2:p.Ala166=
NM_001077401.1:c.498A>G	NP_001070869.1:p.Ala166=
XM_005269235.2:c.498A>G	XP_005269292.1:p.Ala166=
XM_011539008.1:c.355+393A>G	XP_011537310.1:n.355+393A>G
XM_024449279.1:c.-192A>G	XP_024305047.1:n.-192A>G
NM_000020.3:c.498A>G MANE Select	NP_000011.2:p.Ala166=
NM_001077401.2:c.498A>G	NP_001070869.1:p.Ala166=