Canonical Allele Identifier: CA6573093

Gene: ACVRL1

Linked Data

• dbSNP Id: rs552041392
• ExAC: 12:52310008 A / G
• gnomAD v2: 12-52310008-A-G
• gnomAD v3: 12-51916224-A-G
• gnomAD v4: 12-51916224-A-G
• MyVariant Identifiers: chr12:g.52310008A>G (hg19) ; chr12:g.51916224A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916224A>G , CM000674.2:g.51916224A>G	GRCh38
NC_000012.11:g.52310008A>G , CM000674.1:g.52310008A>G	GRCh37
NC_000012.10:g.50596275A>G	NCBI36
NG_009549.1:g.13807A>G , LRG_543:g.13807A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.967A>G	ENSP00000446724.2:p.Ile323Val
ENST00000551576.6:c.1237A>G	ENSP00000455848.2:p.Ile413Val
ENST00000552678.2:c.1237A>G	ENSP00000457394.2:p.Ile413Val
ENST00000388922.9:c.1237A>G MANE Select	ENSP00000373574.4:p.Ile413Val
ENST00000388922.8:c.1237A>G	ENSP00000373574.4:p.Ile413Val
ENST00000419526.6:c.715A>G	ENSP00000392492.2:p.Ile239Val
ENST00000547632.1:n.512A>G
ENST00000550683.5:c.1279A>G	ENSP00000447884.1:p.Ile427Val
ENST00000552678.1:c.242A>G
NM_000020.2:c.1237A>G , LRG_543t1:c.1237A>G	NP_000011.2:p.Ile413Val
NM_001077401.1:c.1237A>G	NP_001070869.1:p.Ile413Val
XM_005269235.2:c.1237A>G	XP_005269292.1:p.Ile413Val
XM_011539008.1:c.967A>G	XP_011537310.1:p.Ile323Val
XM_024449279.1:c.448A>G	XP_024305047.1:p.Ile150Val
NM_000020.3:c.1237A>G MANE Select	NP_000011.2:p.Ile413Val
NM_001077401.2:c.1237A>G	NP_001070869.1:p.Ile413Val