Canonical Allele Identifier: CA2575161617
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920703T>C , CM000674.2:g.51920703T>C GRCh38
NC_000012.11:g.52314487T>C , CM000674.1:g.52314487T>C GRCh37
NC_000012.10:g.50600754T>C NCBI36
NG_009549.1:g.18286T>C , LRG_543:g.18286T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1108-56T>C ENSP00000446724.2:n.1108-56T>C
ENST00000551576.6:c.1378-56T>C ENSP00000455848.2:n.1378-56T>C
ENST00000388922.9:c.1378-56T>C MANE Select ENSP00000373574.4:n.1378-56T>C
ENST00000388922.8:c.1378-56T>C ENSP00000373574.4:n.1378-56T>C
ENST00000419526.6:c.856-56T>C ENSP00000392492.2:n.856-56T>C
ENST00000550683.5:c.1420-56T>C ENSP00000447884.1:n.1420-56T>C
NM_000020.2:c.1378-56T>C , LRG_543t1:c.1378-56T>C NP_000011.2:n.1378-56T>C
NM_001077401.1:c.1378-56T>C NP_001070869.1:n.1378-56T>C
XM_005269235.2:c.1378-56T>C XP_005269292.1:n.1378-56T>C
XM_011539008.1:c.1108-56T>C XP_011537310.1:n.1108-56T>C
XM_024449279.1:c.589-56T>C XP_024305047.1:n.589-56T>C
NM_000020.3:c.1378-56T>C MANE Select NP_000011.2:n.1378-56T>C
NM_001077401.2:c.1378-56T>C NP_001070869.1:n.1378-56T>C