Canonical Allele Identifier: CA2036241628
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920739A>C , CM000674.2:g.51920739A>C GRCh38
NC_000012.11:g.52314523A>C , CM000674.1:g.52314523A>C GRCh37
NC_000012.10:g.50600790A>C NCBI36
NG_009549.1:g.18322A>C , LRG_543:g.18322A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1378-20A>C MANE Select ENSP00000373574.4:n.1378-20A>C
ENST00000388922.8:c.1378-20A>C ENSP00000373574.4:n.1378-20A>C
ENST00000419526.6:c.856-20A>C ENSP00000392492.2:n.856-20A>C
ENST00000550683.5:c.1420-20A>C ENSP00000447884.1:n.1420-20A>C
NM_000020.2:c.1378-20A>C , LRG_543t1:c.1378-20A>C NP_000011.2:n.1378-20A>C
NM_001077401.1:c.1378-20A>C NP_001070869.1:n.1378-20A>C
XM_005269235.2:c.1378-20A>C XP_005269292.1:n.1378-20A>C
XM_011539008.1:c.1108-20A>C XP_011537310.1:n.1108-20A>C
XM_024449279.1:c.589-20A>C XP_024305047.1:n.589-20A>C
NM_000020.3:c.1378-20A>C MANE Select NP_000011.2:n.1378-20A>C
NM_001077401.2:c.1378-20A>C NP_001070869.1:n.1378-20A>C