Canonical Allele Identifier: CA2618864775
Gene: ACVRL1 HGNC NCBI

Linked Data

gnomAD v4: 12-51921308-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51921308G>A , CM000674.2:g.51921308G>A GRCh38
NC_000012.11:g.52315092G>A , CM000674.1:g.52315092G>A GRCh37
NC_000012.10:g.50601359G>A NCBI36
NG_009549.1:g.18891G>A , LRG_543:g.18891G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.*415G>A ENSP00000455848.2:n.*415G>A
ENST00000388922.9:c.*415G>A MANE Select ENSP00000373574.4:n.*415G>A
ENST00000550683.5:c.*415G>A ENSP00000447884.1:n.*415G>A
NM_000020.2:c.*415G>A , LRG_543t1:c.*415G>A NP_000011.2:n.*415G>A
NM_001077401.1:c.*415G>A NP_001070869.1:n.*415G>A
XM_005269235.2:c.*415G>A XP_005269292.1:n.*415G>A
XM_011539008.1:c.*415G>A XP_011537310.1:n.*415G>A
XM_024449279.1:c.*415G>A XP_024305047.1:n.*415G>A
NM_000020.3:c.*415G>A MANE Select NP_000011.2:n.*415G>A
NM_001077401.2:c.*415G>A NP_001070869.1:n.*415G>A
Search 100 bp 5'
Search 100 bp 3'