Canonical Allele Identifier: CA947668828
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs1940952772

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920699C>G , CM000674.2:g.51920699C>G GRCh38
NC_000012.11:g.52314483C>G , CM000674.1:g.52314483C>G GRCh37
NC_000012.10:g.50600750C>G NCBI36
NG_009549.1:g.18282C>G , LRG_543:g.18282C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1108-60C>G ENSP00000446724.2:n.1108-60C>G
ENST00000551576.6:c.1378-60C>G ENSP00000455848.2:n.1378-60C>G
ENST00000388922.9:c.1378-60C>G MANE Select ENSP00000373574.4:n.1378-60C>G
ENST00000388922.8:c.1378-60C>G ENSP00000373574.4:n.1378-60C>G
ENST00000419526.6:c.856-60C>G ENSP00000392492.2:n.856-60C>G
ENST00000550683.5:c.1420-60C>G ENSP00000447884.1:n.1420-60C>G
NM_000020.2:c.1378-60C>G , LRG_543t1:c.1378-60C>G NP_000011.2:n.1378-60C>G
NM_001077401.1:c.1378-60C>G NP_001070869.1:n.1378-60C>G
XM_005269235.2:c.1378-60C>G XP_005269292.1:n.1378-60C>G
XM_011539008.1:c.1108-60C>G XP_011537310.1:n.1108-60C>G
XM_024449279.1:c.589-60C>G XP_024305047.1:n.589-60C>G
NM_000020.3:c.1378-60C>G MANE Select NP_000011.2:n.1378-60C>G
NM_001077401.2:c.1378-60C>G NP_001070869.1:n.1378-60C>G