Canonical Allele Identifier: CA2036241636
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920747C= , CM000674.2:g.51920747C= GRCh38
NC_000012.11:g.52314531C= , CM000674.1:g.52314531C= GRCh37
NC_000012.10:g.50600798C= NCBI36
NG_009549.1:g.18330C= , LRG_543:g.18330C=

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1378-12C= MANE Select ENSP00000373574.4:n.1378-12C=
ENST00000388922.8:c.1378-12C= ENSP00000373574.4:n.1378-12C=
ENST00000419526.6:c.856-12C= ENSP00000392492.2:n.856-12C=
ENST00000550683.5:c.1420-12C= ENSP00000447884.1:n.1420-12C=
NM_000020.2:c.1378-12C= , LRG_543t1:c.1378-12C= NP_000011.2:n.1378-12C=
NM_001077401.1:c.1378-12C= NP_001070869.1:n.1378-12C=
XM_005269235.2:c.1378-12C= XP_005269292.1:n.1378-12C=
XM_011539008.1:c.1108-12C= XP_011537310.1:n.1108-12C=
XM_024449279.1:c.589-12C= XP_024305047.1:n.589-12C=
NM_000020.3:c.1378-12C= MANE Select NP_000011.2:n.1378-12C=
NM_001077401.2:c.1378-12C= NP_001070869.1:n.1378-12C=