Canonical Allele Identifier: CA2036241630
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920740C= , CM000674.2:g.51920740C= GRCh38
NC_000012.11:g.52314524C= , CM000674.1:g.52314524C= GRCh37
NC_000012.10:g.50600791C= NCBI36
NG_009549.1:g.18323C= , LRG_543:g.18323C=

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1108-19C= ENSP00000446724.2:n.1108-19C=
ENST00000551576.6:c.1378-19C= ENSP00000455848.2:n.1378-19C=
ENST00000388922.9:c.1378-19C= MANE Select ENSP00000373574.4:n.1378-19C=
ENST00000388922.8:c.1378-19C= ENSP00000373574.4:n.1378-19C=
ENST00000419526.6:c.856-19C= ENSP00000392492.2:n.856-19C=
ENST00000550683.5:c.1420-19C= ENSP00000447884.1:n.1420-19C=
NM_000020.2:c.1378-19C= , LRG_543t1:c.1378-19C= NP_000011.2:n.1378-19C=
NM_001077401.1:c.1378-19C= NP_001070869.1:n.1378-19C=
XM_005269235.2:c.1378-19C= XP_005269292.1:n.1378-19C=
XM_011539008.1:c.1108-19C= XP_011537310.1:n.1108-19C=
XM_024449279.1:c.589-19C= XP_024305047.1:n.589-19C=
NM_000020.3:c.1378-19C= MANE Select NP_000011.2:n.1378-19C=
NM_001077401.2:c.1378-19C= NP_001070869.1:n.1378-19C=