Canonical Allele Identifier: CA947664803
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs1940699319
gnomAD v3: 12-51912016-T-C
gnomAD v4: 12-51912016-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51912016T>C , CM000674.2:g.51912016T>C GRCh38
NC_000012.11:g.52305800T>C , CM000674.1:g.52305800T>C GRCh37
NC_000012.10:g.50592067T>C NCBI36
NG_009549.1:g.9599T>C , LRG_543:g.9599T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.-5-454T>C ENSP00000455848.2:n.-5-454T>C
ENST00000552678.2:c.-5-454T>C ENSP00000457394.2:n.-5-454T>C
ENST00000388922.9:c.-5-454T>C MANE Select ENSP00000373574.4:n.-5-454T>C
ENST00000388922.8:c.-5-454T>C ENSP00000373574.4:n.-5-454T>C
ENST00000551576.5:c.-5-454T>C ENSP00000455848.1:n.-5-454T>C
NM_000020.2:c.-5-454T>C , LRG_543t1:c.-5-454T>C NP_000011.2:n.-5-454T>C
XM_005269235.2:c.-5-454T>C XP_005269292.1:n.-5-454T>C
NM_000020.3:c.-5-454T>C MANE Select NP_000011.2:n.-5-454T>C
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