Canonical Allele Identifier: CA384905272

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 426031
• ClinVar RCV Id: RCV000488647 ; RCV000756968 ; RCV002395184 ; RCV002527017
• dbSNP Id: rs1085307422
• COSMIC: COSM6137045 ; COSM6137046
• MyVariant Identifiers: chr12:g.52314550C>G (hg19) ; chr12:g.51920766C>G (hg38)
• PubMed: PMID:15065824 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920766C>G , CM000674.2:g.51920766C>G	GRCh38
NC_000012.11:g.52314550C>G , CM000674.1:g.52314550C>G	GRCh37
NC_000012.10:g.50600817C>G	NCBI36
NG_009549.1:g.18349C>G , LRG_543:g.18349C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1115C>G	ENSP00000446724.2:p.Ser372Ter
ENST00000551576.6:c.1385C>G	ENSP00000455848.2:p.Ser462Ter
ENST00000388922.9:c.1385C>G MANE Select	ENSP00000373574.4:p.Ser462Ter
ENST00000388922.8:c.1385C>G	ENSP00000373574.4:p.Ser462Ter
ENST00000419526.6:c.863C>G	ENSP00000392492.2:p.Ser288Ter
ENST00000550683.5:c.1427C>G	ENSP00000447884.1:p.Ser476Ter
NM_000020.2:c.1385C>G , LRG_543t1:c.1385C>G	NP_000011.2:p.Ser462Ter
NM_001077401.1:c.1385C>G	NP_001070869.1:p.Ser462Ter
XM_005269235.2:c.1385C>G	XP_005269292.1:p.Ser462Ter
XM_011539008.1:c.1115C>G	XP_011537310.1:p.Ser372Ter
XM_024449279.1:c.596C>G	XP_024305047.1:p.Ser199Ter
NM_000020.3:c.1385C>G MANE Select	NP_000011.2:p.Ser462Ter
NM_001077401.2:c.1385C>G	NP_001070869.1:p.Ser462Ter