Canonical Allele Identifier: CA397725200
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127504A>G (hg19) chr17:g.7224185A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224185A>G , CM000679.2:g.7224185A>G GRCh38
NC_000017.10:g.7127504A>G , CM000679.1:g.7127504A>G GRCh37
NC_000017.9:g.7068228A>G NCBI36
NG_007975.1:g.9352A>G
NG_008391.2:g.866T>C
NG_033038.1:g.15360T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1474A>G MANE Select ENSP00000349297.5:p.Lys492Glu
ENST00000322910.9:c.*1429A>G ENSP00000325395.5:n.*1429A>G
ENST00000350303.9:c.1408A>G ENSP00000344152.5:p.Lys470Glu
ENST00000356839.9:c.1474A>G ENSP00000349297.5:p.Lys492Glu
ENST00000542255.6:c.332A>G
ENST00000543245.6:c.1543A>G ENSP00000438689.2:p.Lys515Glu
ENST00000578711.1:n.681A>G
ENST00000579391.1:n.82A>G
ENST00000579425.5:n.590A>G
ENST00000579546.1:c.271+116A>G
ENST00000579894.5:n.261A>G
ENST00000583074.5:n.153+116A>G
ENST00000583850.5:n.249A>G
ENST00000583858.5:c.463+116A>G
ENST00000585203.6:n.665A>G
NM_000018.3:c.1474A>G NP_000009.1:p.Lys492Glu
NM_001033859.2:c.1408A>G NP_001029031.1:p.Lys470Glu
NM_001270447.1:c.1543A>G NP_001257376.1:p.Lys515Glu
NM_001270448.1:c.1246A>G NP_001257377.1:p.Lys416Glu
XM_006721516.2:c.1474A>G XP_006721579.2:p.Lys492Glu
XM_011523829.1:c.1434+116A>G XP_011522131.1:n.1434+116A>G
XM_011523830.1:c.1434+116A>G XP_011522132.1:n.1434+116A>G
XR_934021.1:n.1581A>G
XR_934022.1:n.1541+116A>G
XR_934023.1:n.1541+116A>G
XM_006721516.3:c.1474A>G XP_006721579.2:p.Lys492Glu
XM_011523829.2:c.1434+116A>G XP_011522131.1:n.1434+116A>G
XM_011523830.2:c.1434+116A>G XP_011522132.1:n.1434+116A>G
XM_024450741.1:c.1434+116A>G XP_024306509.1:n.1434+116A>G
XR_934021.2:n.1533A>G
XR_934022.2:n.1493+116A>G
XR_934023.2:n.1493+116A>G
NM_000018.4:c.1474A>G MANE Select NP_000009.1:p.Lys492Glu
NM_001033859.3:c.1408A>G NP_001029031.1:p.Lys470Glu
NM_001270447.2:c.1543A>G NP_001257376.1:p.Lys515Glu
NM_001270448.2:c.1246A>G NP_001257377.1:p.Lys416Glu
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