Canonical Allele Identifier: CA2036242386
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs1940973498
gnomAD v4: 12-51921244-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51921244T>A , CM000674.2:g.51921244T>A GRCh38
NC_000012.11:g.52315028T>A , CM000674.1:g.52315028T>A GRCh37
NC_000012.10:g.50601295T>A NCBI36
NG_009549.1:g.18827T>A , LRG_543:g.18827T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.*351T>A ENSP00000455848.2:n.*351T>A
ENST00000388922.9:c.*351T>A MANE Select ENSP00000373574.4:n.*351T>A
ENST00000550683.5:c.*351T>A ENSP00000447884.1:n.*351T>A
NM_000020.2:c.*351T>A , LRG_543t1:c.*351T>A NP_000011.2:n.*351T>A
NM_001077401.1:c.*351T>A NP_001070869.1:n.*351T>A
XM_005269235.2:c.*351T>A XP_005269292.1:n.*351T>A
XM_011539008.1:c.*351T>A XP_011537310.1:n.*351T>A
XM_024449279.1:c.*351T>A XP_024305047.1:n.*351T>A
NM_000020.3:c.*351T>A MANE Select NP_000011.2:n.*351T>A
NM_001077401.2:c.*351T>A NP_001070869.1:n.*351T>A
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