Canonical Allele Identifier: CA397724646
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7223691-C-G
MyVariant Identifiers: chr17:g.7127010C>G (hg19) chr17:g.7223691C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223691C>G , CM000679.2:g.7223691C>G GRCh38
NC_000017.10:g.7127010C>G , CM000679.1:g.7127010C>G GRCh37
NC_000017.9:g.7067734C>G NCBI36
NG_007975.1:g.8858C>G
NG_008391.2:g.1360G>C
NG_033038.1:g.15854G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1230C>G MANE Select ENSP00000349297.5:p.Asp410Glu
ENST00000322910.9:c.*1185C>G ENSP00000325395.5:n.*1185C>G
ENST00000350303.9:c.1164C>G ENSP00000344152.5:p.Asp388Glu
ENST00000356839.9:c.1230C>G ENSP00000349297.5:p.Asp410Glu
ENST00000542255.6:c.88C>G
ENST00000543245.6:c.1299C>G ENSP00000438689.2:p.Asp433Glu
ENST00000578579.2:n.401C>G
ENST00000578711.1:n.187C>G
ENST00000578824.5:n.646C>G
ENST00000579425.5:n.254C>G
ENST00000579546.1:c.67C>G
ENST00000583850.5:n.5C>G
ENST00000583858.5:c.259C>G
ENST00000585203.6:n.438C>G
NM_000018.3:c.1230C>G NP_000009.1:p.Asp410Glu
NM_001033859.2:c.1164C>G NP_001029031.1:p.Asp388Glu
NM_001270447.1:c.1299C>G NP_001257376.1:p.Asp433Glu
NM_001270448.1:c.1002C>G NP_001257377.1:p.Asp334Glu
XM_006721516.2:c.1230C>G XP_006721579.2:p.Asp410Glu
XM_011523829.1:c.1230C>G XP_011522131.1:p.Asp410Glu
XM_011523830.1:c.1230C>G XP_011522132.1:p.Asp410Glu
XR_934021.1:n.1337C>G
XR_934022.1:n.1337C>G
XR_934023.1:n.1337C>G
XM_006721516.3:c.1230C>G XP_006721579.2:p.Asp410Glu
XM_011523829.2:c.1230C>G XP_011522131.1:p.Asp410Glu
XM_011523830.2:c.1230C>G XP_011522132.1:p.Asp410Glu
XM_024450741.1:c.1230C>G XP_024306509.1:p.Asp410Glu
XR_934021.2:n.1289C>G
XR_934022.2:n.1289C>G
XR_934023.2:n.1289C>G
NM_000018.4:c.1230C>G MANE Select NP_000009.1:p.Asp410Glu
NM_001033859.3:c.1164C>G NP_001029031.1:p.Asp388Glu
NM_001270447.2:c.1299C>G NP_001257376.1:p.Asp433Glu
NM_001270448.2:c.1002C>G NP_001257377.1:p.Asp334Glu
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