Canonical Allele Identifier: CA2618864628
Gene: ACVRL1 HGNC NCBI

Linked Data

gnomAD v4: 12-51921229-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51921229C>A , CM000674.2:g.51921229C>A GRCh38
NC_000012.11:g.52315013C>A , CM000674.1:g.52315013C>A GRCh37
NC_000012.10:g.50601280C>A NCBI36
NG_009549.1:g.18812C>A , LRG_543:g.18812C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.*336C>A ENSP00000455848.2:n.*336C>A
ENST00000388922.9:c.*336C>A MANE Select ENSP00000373574.4:n.*336C>A
ENST00000550683.5:c.*336C>A ENSP00000447884.1:n.*336C>A
NM_000020.2:c.*336C>A , LRG_543t1:c.*336C>A NP_000011.2:n.*336C>A
NM_001077401.1:c.*336C>A NP_001070869.1:n.*336C>A
XM_005269235.2:c.*336C>A XP_005269292.1:n.*336C>A
XM_011539008.1:c.*336C>A XP_011537310.1:n.*336C>A
XM_024449279.1:c.*336C>A XP_024305047.1:n.*336C>A
NM_000020.3:c.*336C>A MANE Select NP_000011.2:n.*336C>A
NM_001077401.2:c.*336C>A NP_001070869.1:n.*336C>A
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