Canonical Allele Identifier: CA287436715
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1548234
ClinVar RCV Id: RCV002165902
dbSNP Id: rs1021636784
gnomAD v2: 17-7125261-T-C
gnomAD v3: 17-7221942-T-C
gnomAD v4: 17-7221942-T-C
MyVariant Identifiers: chr17:g.7125261T>C (hg19) chr17:g.7221942T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221942T>C , CM000679.2:g.7221942T>C GRCh38
NC_000017.10:g.7125261T>C , CM000679.1:g.7125261T>C GRCh37
NC_000017.9:g.7065985T>C NCBI36
NG_007975.1:g.7109T>C
NG_008391.2:g.3109A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.623-10T>C MANE Select ENSP00000349297.5:n.623-10T>C
ENST00000322910.9:c.*578-10T>C ENSP00000325395.5:n.*578-10T>C
ENST00000350303.9:c.557-10T>C ENSP00000344152.5:n.557-10T>C
ENST00000356839.9:c.623-10T>C ENSP00000349297.5:n.623-10T>C
ENST00000543245.6:c.692-10T>C ENSP00000438689.2:n.692-10T>C
ENST00000577191.5:n.700-10T>C
ENST00000577857.5:n.439-10T>C
ENST00000579286.5:n.804-10T>C
ENST00000579886.2:c.461-10T>C ENSP00000463246.1:n.461-10T>C
ENST00000580365.1:n.354-10T>C
ENST00000581378.5:c.341-10T>C
ENST00000581562.5:n.525-10T>C
ENST00000583312.5:c.628T>C ENSP00000467920.1:p.Ser210Pro
ENST00000583760.1:n.405-10T>C
NM_000018.3:c.623-10T>C NP_000009.1:n.623-10T>C
NM_001033859.2:c.557-10T>C NP_001029031.1:n.557-10T>C
NM_001270447.1:c.692-10T>C NP_001257376.1:n.692-10T>C
NM_001270448.1:c.395-10T>C NP_001257377.1:n.395-10T>C
XM_006721516.2:c.623-10T>C XP_006721579.2:n.623-10T>C
XM_011523829.1:c.623-10T>C XP_011522131.1:n.623-10T>C
XM_011523830.1:c.623-10T>C XP_011522132.1:n.623-10T>C
XR_934021.1:n.730-10T>C
XR_934022.1:n.730-10T>C
XR_934023.1:n.730-10T>C
XM_006721516.3:c.623-10T>C XP_006721579.2:n.623-10T>C
XM_011523829.2:c.623-10T>C XP_011522131.1:n.623-10T>C
XM_011523830.2:c.623-10T>C XP_011522132.1:n.623-10T>C
XM_024450741.1:c.623-10T>C XP_024306509.1:n.623-10T>C
XR_934021.2:n.682-10T>C
XR_934022.2:n.682-10T>C
XR_934023.2:n.682-10T>C
NM_000018.4:c.623-10T>C MANE Select NP_000009.1:n.623-10T>C
NM_001033859.3:c.557-10T>C NP_001029031.1:n.557-10T>C
NM_001270447.2:c.692-10T>C NP_001257376.1:n.692-10T>C
NM_001270448.2:c.395-10T>C NP_001257377.1:n.395-10T>C
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