Canonical Allele Identifier: CA2618855789
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51912321C>A , CM000674.2:g.51912321C>A GRCh38
NC_000012.11:g.52306105C>A , CM000674.1:g.52306105C>A GRCh37
NC_000012.10:g.50592372C>A NCBI36
NG_009549.1:g.9904C>A , LRG_543:g.9904C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.-5-149C>A ENSP00000455848.2:n.-5-149C>A
ENST00000552678.2:c.-5-149C>A ENSP00000457394.2:n.-5-149C>A
ENST00000388922.9:c.-5-149C>A MANE Select ENSP00000373574.4:n.-5-149C>A
ENST00000388922.8:c.-5-149C>A ENSP00000373574.4:n.-5-149C>A
ENST00000551576.5:c.-5-149C>A ENSP00000455848.1:n.-5-149C>A
NM_000020.2:c.-5-149C>A , LRG_543t1:c.-5-149C>A NP_000011.2:n.-5-149C>A
XM_005269235.2:c.-5-149C>A XP_005269292.1:n.-5-149C>A
NM_000020.3:c.-5-149C>A MANE Select NP_000011.2:n.-5-149C>A