Canonical Allele Identifier: CA384906222
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920868C>A , CM000674.2:g.51920868C>A GRCh38
NC_000012.11:g.52314652C>A , CM000674.1:g.52314652C>A GRCh37
NC_000012.10:g.50600919C>A NCBI36
NG_009549.1:g.18451C>A , LRG_543:g.18451C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.1217C>A ENSP00000446724.2:p.Pro406Gln
ENST00000551576.6:c.1487C>A ENSP00000455848.2:p.Pro496Gln
ENST00000388922.9:c.1487C>A MANE Select ENSP00000373574.4:p.Pro496Gln
ENST00000388922.8:c.1487C>A ENSP00000373574.4:p.Pro496Gln
ENST00000419526.6:c.965C>A ENSP00000392492.2:p.Pro322Gln
ENST00000550683.5:c.1529C>A ENSP00000447884.1:p.Pro510Gln
NM_000020.2:c.1487C>A , LRG_543t1:c.1487C>A NP_000011.2:p.Pro496Gln
NM_001077401.1:c.1487C>A NP_001070869.1:p.Pro496Gln
XM_005269235.2:c.1487C>A XP_005269292.1:p.Pro496Gln
XM_011539008.1:c.1217C>A XP_011537310.1:p.Pro406Gln
XM_024449279.1:c.698C>A XP_024305047.1:p.Pro233Gln
NM_000020.3:c.1487C>A MANE Select NP_000011.2:p.Pro496Gln
NM_001077401.2:c.1487C>A NP_001070869.1:p.Pro496Gln