Canonical Allele Identifier: CA479816861
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1623323
ClinVar RCV Id: RCV002109971
MyVariant Identifiers: chr12:g.52314615C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920831C>A , CM000674.2:g.51920831C>A GRCh38
NC_000012.11:g.52314615C>A , CM000674.1:g.52314615C>A GRCh37
NC_000012.10:g.50600882C>A NCBI36
NG_009549.1:g.18414C>A , LRG_543:g.18414C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1450C>A MANE Select ENSP00000373574.4:p.Arg484=
ENST00000388922.8:c.1450C>A ENSP00000373574.4:p.Arg484=
ENST00000419526.6:c.928C>A ENSP00000392492.2:p.Arg310=
ENST00000550683.5:c.1492C>A ENSP00000447884.1:p.Arg498=
NM_000020.2:c.1450C>A , LRG_543t1:c.1450C>A NP_000011.2:p.Arg484=
NM_001077401.1:c.1450C>A NP_001070869.1:p.Arg484=
XM_005269235.2:c.1450C>A XP_005269292.1:p.Arg484=
XM_011539008.1:c.1180C>A XP_011537310.1:p.Arg394=
XM_024449279.1:c.661C>A XP_024305047.1:p.Arg221=
NM_000020.3:c.1450C>A MANE Select NP_000011.2:p.Arg484=
NM_001077401.2:c.1450C>A NP_001070869.1:p.Arg484=