Canonical Allele Identifier: CA2573154545
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1564042
ClinVar RCV Id: RCV002209693
dbSNP Id: rs2142976404
gnomAD v4: 17-7221938-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221938T>C , CM000679.2:g.7221938T>C GRCh38
NC_000017.10:g.7125257T>C , CM000679.1:g.7125257T>C GRCh37
NC_000017.9:g.7065981T>C NCBI36
NG_007975.1:g.7105T>C
NG_008391.2:g.3113A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.623-14T>C MANE Select ENSP00000349297.5:n.623-14T>C
ENST00000322910.9:c.*578-14T>C ENSP00000325395.5:n.*578-14T>C
ENST00000350303.9:c.557-14T>C ENSP00000344152.5:n.557-14T>C
ENST00000356839.9:c.623-14T>C ENSP00000349297.5:n.623-14T>C
ENST00000543245.6:c.692-14T>C ENSP00000438689.2:n.692-14T>C
ENST00000577191.5:n.700-14T>C
ENST00000577857.5:n.439-14T>C
ENST00000579286.5:n.804-14T>C
ENST00000579886.2:c.461-14T>C ENSP00000463246.1:n.461-14T>C
ENST00000580365.1:n.354-14T>C
ENST00000581378.5:c.341-14T>C
ENST00000581562.5:n.525-14T>C
ENST00000583312.5:c.624T>C ENSP00000467920.1:p.Ala208=
ENST00000583760.1:n.405-14T>C
NM_000018.3:c.623-14T>C NP_000009.1:n.623-14T>C
NM_001033859.2:c.557-14T>C NP_001029031.1:n.557-14T>C
NM_001270447.1:c.692-14T>C NP_001257376.1:n.692-14T>C
NM_001270448.1:c.395-14T>C NP_001257377.1:n.395-14T>C
XM_006721516.2:c.623-14T>C XP_006721579.2:n.623-14T>C
XM_011523829.1:c.623-14T>C XP_011522131.1:n.623-14T>C
XM_011523830.1:c.623-14T>C XP_011522132.1:n.623-14T>C
XR_934021.1:n.730-14T>C
XR_934022.1:n.730-14T>C
XR_934023.1:n.730-14T>C
XM_006721516.3:c.623-14T>C XP_006721579.2:n.623-14T>C
XM_011523829.2:c.623-14T>C XP_011522131.1:n.623-14T>C
XM_011523830.2:c.623-14T>C XP_011522132.1:n.623-14T>C
XM_024450741.1:c.623-14T>C XP_024306509.1:n.623-14T>C
XR_934021.2:n.682-14T>C
XR_934022.2:n.682-14T>C
XR_934023.2:n.682-14T>C
NM_000018.4:c.623-14T>C MANE Select NP_000009.1:n.623-14T>C
NM_001033859.3:c.557-14T>C NP_001029031.1:n.557-14T>C
NM_001270447.2:c.692-14T>C NP_001257376.1:n.692-14T>C
NM_001270448.2:c.395-14T>C NP_001257377.1:n.395-14T>C
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