Canonical Allele Identifier: CA384900072

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2735871
• ClinVar RCV Id: RCV003508991
• MyVariant Identifiers: chr12:g.52308283A>G (hg19) ; chr12:g.51914499A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914499A>G , CM000674.2:g.51914499A>G	GRCh38
NC_000012.11:g.52308283A>G , CM000674.1:g.52308283A>G	GRCh37
NC_000012.10:g.50594550A>G	NCBI36
NG_009549.1:g.12082A>G , LRG_543:g.12082A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.416A>G	ENSP00000446724.2:p.Lys139Arg
ENST00000551576.6:c.686A>G	ENSP00000455848.2:p.Lys229Arg
ENST00000552678.2:c.686A>G	ENSP00000457394.2:p.Lys229Arg
ENST00000388922.9:c.686A>G MANE Select	ENSP00000373574.4:p.Lys229Arg
ENST00000388922.8:c.686A>G	ENSP00000373574.4:p.Lys229Arg
ENST00000419526.6:c.164A>G	ENSP00000392492.2:p.Lys55Arg
ENST00000547400.5:c.416A>G	ENSP00000446724.1:p.Lys139Arg
ENST00000550683.5:c.728A>G	ENSP00000447884.1:p.Lys243Arg
NM_000020.2:c.686A>G , LRG_543t1:c.686A>G	NP_000011.2:p.Lys229Arg
NM_001077401.1:c.686A>G	NP_001070869.1:p.Lys229Arg
XM_005269235.2:c.686A>G	XP_005269292.1:p.Lys229Arg
XM_011539008.1:c.416A>G	XP_011537310.1:p.Lys139Arg
XM_024449279.1:c.-104A>G	XP_024305047.1:n.-104A>G
NM_000020.3:c.686A>G MANE Select	NP_000011.2:p.Lys229Arg
NM_001077401.2:c.686A>G	NP_001070869.1:p.Lys229Arg