Canonical Allele Identifier: CA479817355

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1423421761
• gnomAD v2: 12-52314665-A-G
• gnomAD v4: 12-51920881-A-G
• MyVariant Identifiers: chr12:g.52314665A>G (hg19) ; chr12:g.51920881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920881A>G , CM000674.2:g.51920881A>G	GRCh38
NC_000012.11:g.52314665A>G , CM000674.1:g.52314665A>G	GRCh37
NC_000012.10:g.50600932A>G	NCBI36
NG_009549.1:g.18464A>G , LRG_543:g.18464A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1230A>G	ENSP00000446724.2:p.Lys410=
ENST00000551576.6:c.1500A>G	ENSP00000455848.2:p.Lys500=
ENST00000388922.9:c.1500A>G MANE Select	ENSP00000373574.4:p.Lys500=
ENST00000388922.8:c.1500A>G	ENSP00000373574.4:p.Lys500=
ENST00000419526.6:c.978A>G	ENSP00000392492.2:p.Lys326=
ENST00000550683.5:c.1542A>G	ENSP00000447884.1:p.Lys514=
NM_000020.2:c.1500A>G , LRG_543t1:c.1500A>G	NP_000011.2:p.Lys500=
NM_001077401.1:c.1500A>G	NP_001070869.1:p.Lys500=
XM_005269235.2:c.1500A>G	XP_005269292.1:p.Lys500=
XM_011539008.1:c.1230A>G	XP_011537310.1:p.Lys410=
XM_024449279.1:c.711A>G	XP_024305047.1:p.Lys237=
NM_000020.3:c.1500A>G MANE Select	NP_000011.2:p.Lys500=
NM_001077401.2:c.1500A>G	NP_001070869.1:p.Lys500=