Canonical Allele Identifier: CA2036241640
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920748C= , CM000674.2:g.51920748C= GRCh38
NC_000012.11:g.52314532C= , CM000674.1:g.52314532C= GRCh37
NC_000012.10:g.50600799C= NCBI36
NG_009549.1:g.18331C= , LRG_543:g.18331C=

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1378-11C= MANE Select ENSP00000373574.4:n.1378-11C=
ENST00000388922.8:c.1378-11C= ENSP00000373574.4:n.1378-11C=
ENST00000419526.6:c.856-11C= ENSP00000392492.2:n.856-11C=
ENST00000550683.5:c.1420-11C= ENSP00000447884.1:n.1420-11C=
NM_000020.2:c.1378-11C= , LRG_543t1:c.1378-11C= NP_000011.2:n.1378-11C=
NM_001077401.1:c.1378-11C= NP_001070869.1:n.1378-11C=
XM_005269235.2:c.1378-11C= XP_005269292.1:n.1378-11C=
XM_011539008.1:c.1108-11C= XP_011537310.1:n.1108-11C=
XM_024449279.1:c.589-11C= XP_024305047.1:n.589-11C=
NM_000020.3:c.1378-11C= MANE Select NP_000011.2:n.1378-11C=
NM_001077401.2:c.1378-11C= NP_001070869.1:n.1378-11C=