Canonical Allele Identifier: CA2036241638
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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