Canonical Allele Identifier: CA2036269386
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915166A= , CM000674.2:g.51915166A= GRCh38
NC_000012.11:g.52308950A= , CM000674.1:g.52308950A= GRCh37
NC_000012.10:g.50595217A= NCBI36
NG_009549.1:g.12749A= , LRG_543:g.12749A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.503-59A= ENSP00000446724.2:n.503-59A=
ENST00000551576.6:c.773-59A= ENSP00000455848.2:n.773-59A=
ENST00000552678.2:c.773-59A= ENSP00000457394.2:n.773-59A=
ENST00000388922.9:c.773-59A= MANE Select ENSP00000373574.4:n.773-59A=
ENST00000388922.8:c.773-59A= ENSP00000373574.4:n.773-59A=
ENST00000419526.6:c.251-59A= ENSP00000392492.2:n.251-59A=
ENST00000550683.5:c.815-59A= ENSP00000447884.1:n.815-59A=
NM_000020.2:c.773-59A= , LRG_543t1:c.773-59A= NP_000011.2:n.773-59A=
NM_001077401.1:c.773-59A= NP_001070869.1:n.773-59A=
XM_005269235.2:c.773-59A= XP_005269292.1:n.773-59A=
XM_011539008.1:c.503-59A= XP_011537310.1:n.503-59A=
XM_024449279.1:c.-17-59A= XP_024305047.1:n.-17-59A=
NM_000020.3:c.773-59A= MANE Select NP_000011.2:n.773-59A=
NM_001077401.2:c.773-59A= NP_001070869.1:n.773-59A=