Canonical Allele Identifier: CA2036265740
Gene: ACVRL1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51912039G= , CM000674.2:g.51912039G= GRCh38
NC_000012.11:g.52305823G= , CM000674.1:g.52305823G= GRCh37
NC_000012.10:g.50592090G= NCBI36
NG_009549.1:g.9622G= , LRG_543:g.9622G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.-5-431G= ENSP00000455848.2:n.-5-431G=
ENST00000552678.2:c.-5-431G= ENSP00000457394.2:n.-5-431G=
ENST00000388922.9:c.-5-431G= MANE Select ENSP00000373574.4:n.-5-431G=
ENST00000388922.8:c.-5-431G= ENSP00000373574.4:n.-5-431G=
ENST00000551576.5:c.-5-431G= ENSP00000455848.1:n.-5-431G=
NM_000020.2:c.-5-431G= , LRG_543t1:c.-5-431G= NP_000011.2:n.-5-431G=
XM_005269235.2:c.-5-431G= XP_005269292.1:n.-5-431G=
NM_000020.3:c.-5-431G= MANE Select NP_000011.2:n.-5-431G=
Search 100 bp 5'
Search 100 bp 3'