Canonical Allele Identifier: CA2036236592
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915900C= , CM000674.2:g.51915900C= GRCh38
NC_000012.11:g.52309684C= , CM000674.1:g.52309684C= GRCh37
NC_000012.10:g.50595951C= NCBI36
NG_009549.1:g.13483C= , LRG_543:g.13483C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.779-136C= ENSP00000446724.2:n.779-136C=
ENST00000551576.6:c.1049-136C= ENSP00000455848.2:n.1049-136C=
ENST00000552678.2:c.1049-136C= ENSP00000457394.2:n.1049-136C=
ENST00000388922.9:c.1049-136C= MANE Select ENSP00000373574.4:n.1049-136C=
ENST00000388922.8:c.1049-136C= ENSP00000373574.4:n.1049-136C=
ENST00000419526.6:c.527-136C= ENSP00000392492.2:n.527-136C=
ENST00000547632.1:n.188C=
ENST00000550683.5:c.1091-136C= ENSP00000447884.1:n.1091-136C=
ENST00000552678.1:c.54-136C=
NM_000020.2:c.1049-136C= , LRG_543t1:c.1049-136C= NP_000011.2:n.1049-136C=
NM_001077401.1:c.1049-136C= NP_001070869.1:n.1049-136C=
XM_005269235.2:c.1049-136C= XP_005269292.1:n.1049-136C=
XM_011539008.1:c.779-136C= XP_011537310.1:n.779-136C=
XM_024449279.1:c.260-136C= XP_024305047.1:n.260-136C=
NM_000020.3:c.1049-136C= MANE Select NP_000011.2:n.1049-136C=
NM_001077401.2:c.1049-136C= NP_001070869.1:n.1049-136C=