Canonical Allele Identifier: CA2036241914
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920834A= , CM000674.2:g.51920834A= GRCh38
NC_000012.11:g.52314618A= , CM000674.1:g.52314618A= GRCh37
NC_000012.10:g.50600885A= NCBI36
NG_009549.1:g.18417A= , LRG_543:g.18417A=

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1453A= MANE Select ENSP00000373574.4:p.Ile485=
ENST00000388922.8:c.1453A= ENSP00000373574.4:p.Ile485=
ENST00000419526.6:c.931A= ENSP00000392492.2:p.Ile311=
ENST00000550683.5:c.1495A= ENSP00000447884.1:p.Ile499=
NM_000020.2:c.1453A= , LRG_543t1:c.1453A= NP_000011.2:p.Ile485=
NM_001077401.1:c.1453A= NP_001070869.1:p.Ile485=
XM_005269235.2:c.1453A= XP_005269292.1:p.Ile485=
XM_011539008.1:c.1183A= XP_011537310.1:p.Ile395=
XM_024449279.1:c.664A= XP_024305047.1:p.Ile222=
NM_000020.3:c.1453A= MANE Select NP_000011.2:p.Ile485=
NM_001077401.2:c.1453A= NP_001070869.1:p.Ile485=