Canonical Allele Identifier: CA384906018
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920850A>G , CM000674.2:g.51920850A>G GRCh38
NC_000012.11:g.52314634A>G , CM000674.1:g.52314634A>G GRCh37
NC_000012.10:g.50600901A>G NCBI36
NG_009549.1:g.18433A>G , LRG_543:g.18433A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1199A>G ENSP00000446724.2:p.Gln400Arg
ENST00000551576.6:c.1469A>G ENSP00000455848.2:p.Gln490Arg
ENST00000388922.9:c.1469A>G MANE Select ENSP00000373574.4:p.Gln490Arg
ENST00000388922.8:c.1469A>G ENSP00000373574.4:p.Gln490Arg
ENST00000419526.6:c.947A>G ENSP00000392492.2:p.Gln316Arg
ENST00000550683.5:c.1511A>G ENSP00000447884.1:p.Gln504Arg
NM_000020.2:c.1469A>G , LRG_543t1:c.1469A>G NP_000011.2:p.Gln490Arg
NM_001077401.1:c.1469A>G NP_001070869.1:p.Gln490Arg
XM_005269235.2:c.1469A>G XP_005269292.1:p.Gln490Arg
XM_011539008.1:c.1199A>G XP_011537310.1:p.Gln400Arg
XM_024449279.1:c.680A>G XP_024305047.1:p.Gln227Arg
NM_000020.3:c.1469A>G MANE Select NP_000011.2:p.Gln490Arg
NM_001077401.2:c.1469A>G NP_001070869.1:p.Gln490Arg