Canonical Allele Identifier: CA397724754
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2907982
ClinVar RCV Id: RCV003601255
gnomAD v4: 17-7223817-C-T
MyVariant Identifiers: chr17:g.7127136C>T (hg19) chr17:g.7223817C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223817C>T , CM000679.2:g.7223817C>T GRCh38
NC_000017.10:g.7127136C>T , CM000679.1:g.7127136C>T GRCh37
NC_000017.9:g.7067860C>T NCBI36
NG_007975.1:g.8984C>T
NG_008391.2:g.1234G>A
NG_033038.1:g.15728G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1274C>T MANE Select ENSP00000349297.5:p.Ala425Val
ENST00000322910.9:c.*1229C>T ENSP00000325395.5:n.*1229C>T
ENST00000350303.9:c.1208C>T ENSP00000344152.5:p.Ala403Val
ENST00000356839.9:c.1274C>T ENSP00000349297.5:p.Ala425Val
ENST00000542255.6:c.132C>T
ENST00000543245.6:c.1343C>T ENSP00000438689.2:p.Ala448Val
ENST00000578579.2:n.445C>T
ENST00000578711.1:n.313C>T
ENST00000578824.5:n.690C>T
ENST00000579425.5:n.298C>T
ENST00000579546.1:c.111C>T
ENST00000583850.5:n.49C>T
ENST00000583858.5:c.303C>T
ENST00000585203.6:n.482C>T
NM_000018.3:c.1274C>T NP_000009.1:p.Ala425Val
NM_001033859.2:c.1208C>T NP_001029031.1:p.Ala403Val
NM_001270447.1:c.1343C>T NP_001257376.1:p.Ala448Val
NM_001270448.1:c.1046C>T NP_001257377.1:p.Ala349Val
XM_006721516.2:c.1274C>T XP_006721579.2:p.Ala425Val
XM_011523829.1:c.1274C>T XP_011522131.1:p.Ala425Val
XM_011523830.1:c.1274C>T XP_011522132.1:p.Ala425Val
XR_934021.1:n.1381C>T
XR_934022.1:n.1381C>T
XR_934023.1:n.1381C>T
XM_006721516.3:c.1274C>T XP_006721579.2:p.Ala425Val
XM_011523829.2:c.1274C>T XP_011522131.1:p.Ala425Val
XM_011523830.2:c.1274C>T XP_011522132.1:p.Ala425Val
XM_024450741.1:c.1274C>T XP_024306509.1:p.Ala425Val
XR_934021.2:n.1333C>T
XR_934022.2:n.1333C>T
XR_934023.2:n.1333C>T
NM_000018.4:c.1274C>T MANE Select NP_000009.1:p.Ala425Val
NM_001033859.3:c.1208C>T NP_001029031.1:p.Ala403Val
NM_001270447.2:c.1343C>T NP_001257376.1:p.Ala448Val
NM_001270448.2:c.1046C>T NP_001257377.1:p.Ala349Val
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