Canonical Allele Identifier: CA2036265708
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51912005A= , CM000674.2:g.51912005A= GRCh38
NC_000012.11:g.52305789A= , CM000674.1:g.52305789A= GRCh37
NC_000012.10:g.50592056A= NCBI36
NG_009549.1:g.9588A= , LRG_543:g.9588A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.-5-465A= ENSP00000455848.2:n.-5-465A=
ENST00000552678.2:c.-5-465A= ENSP00000457394.2:n.-5-465A=
ENST00000388922.9:c.-5-465A= MANE Select ENSP00000373574.4:n.-5-465A=
ENST00000388922.8:c.-5-465A= ENSP00000373574.4:n.-5-465A=
ENST00000551576.5:c.-5-465A= ENSP00000455848.1:n.-5-465A=
NM_000020.2:c.-5-465A= , LRG_543t1:c.-5-465A= NP_000011.2:n.-5-465A=
XM_005269235.2:c.-5-465A= XP_005269292.1:n.-5-465A=
NM_000020.3:c.-5-465A= MANE Select NP_000011.2:n.-5-465A=