Canonical Allele Identifier: CA2036241659
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920759G= , CM000674.2:g.51920759G= GRCh38
NC_000012.11:g.52314543G= , CM000674.1:g.52314543G= GRCh37
NC_000012.10:g.50600810G= NCBI36
NG_009549.1:g.18342G= , LRG_543:g.18342G=

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1378G= MANE Select ENSP00000373574.4:p.Val460=
ENST00000388922.8:c.1378G= ENSP00000373574.4:p.Val460=
ENST00000419526.6:c.856G= ENSP00000392492.2:p.Val286=
ENST00000550683.5:c.1420G= ENSP00000447884.1:p.Val474=
NM_000020.2:c.1378G= , LRG_543t1:c.1378G= NP_000011.2:p.Val460=
NM_001077401.1:c.1378G= NP_001070869.1:p.Val460=
XM_005269235.2:c.1378G= XP_005269292.1:p.Val460=
XM_011539008.1:c.1108G= XP_011537310.1:p.Val370=
XM_024449279.1:c.589G= XP_024305047.1:p.Val197=
NM_000020.3:c.1378G= MANE Select NP_000011.2:p.Val460=
NM_001077401.2:c.1378G= NP_001070869.1:p.Val460=