Canonical Allele Identifier: CA10642700
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 309452
ClinVar RCV Id: RCV000323463
dbSNP Id: rs114741844
gnomAD v2: 12-52315100-C-T
gnomAD v3: 12-51921316-C-T
gnomAD v4: 12-51921316-C-T
MyVariant Identifiers: chr12:g.52315100C>T (hg19) chr12:g.51921316C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51921316C>T , CM000674.2:g.51921316C>T GRCh38
NC_000012.11:g.52315100C>T , CM000674.1:g.52315100C>T GRCh37
NC_000012.10:g.50601367C>T NCBI36
NG_009549.1:g.18899C>T , LRG_543:g.18899C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.*423C>T ENSP00000455848.2:n.*423C>T
ENST00000388922.9:c.*423C>T MANE Select ENSP00000373574.4:n.*423C>T
ENST00000550683.5:c.*423C>T ENSP00000447884.1:n.*423C>T
NM_000020.2:c.*423C>T , LRG_543t1:c.*423C>T NP_000011.2:n.*423C>T
NM_001077401.1:c.*423C>T NP_001070869.1:n.*423C>T
XM_005269235.2:c.*423C>T XP_005269292.1:n.*423C>T
XM_011539008.1:c.*423C>T XP_011537310.1:n.*423C>T
XM_024449279.1:c.*423C>T XP_024305047.1:n.*423C>T
NM_000020.3:c.*423C>T MANE Select NP_000011.2:n.*423C>T
NM_001077401.2:c.*423C>T NP_001070869.1:n.*423C>T
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