Canonical Allele Identifier: CA497693801
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124976A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221657A>G , CM000679.2:g.7221657A>G GRCh38
NC_000017.10:g.7124976A>G , CM000679.1:g.7124976A>G GRCh37
NC_000017.9:g.7065700A>G NCBI36
NG_007975.1:g.6824A>G
NG_008391.2:g.3394T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.597A>G MANE Select ENSP00000349297.5:p.Glu199=
ENST00000322910.9:c.*552A>G ENSP00000325395.5:n.*552A>G
ENST00000350303.9:c.531A>G ENSP00000344152.5:p.Glu177=
ENST00000356839.9:c.597A>G ENSP00000349297.5:p.Glu199=
ENST00000543245.6:c.666A>G ENSP00000438689.2:p.Glu222=
ENST00000577191.5:n.674A>G
ENST00000577857.5:n.413A>G
ENST00000579286.5:n.778A>G
ENST00000579886.2:c.435A>G ENSP00000463246.1:p.Glu145=
ENST00000580365.1:n.328A>G
ENST00000581378.5:c.315A>G
ENST00000581562.5:n.525-295A>G
ENST00000583312.5:c.597A>G ENSP00000467920.1:p.Glu199=
ENST00000583760.1:n.379A>G
NM_000018.3:c.597A>G NP_000009.1:p.Glu199=
NM_001033859.2:c.531A>G NP_001029031.1:p.Glu177=
NM_001270447.1:c.666A>G NP_001257376.1:p.Glu222=
NM_001270448.1:c.369A>G NP_001257377.1:p.Glu123=
XM_006721516.2:c.597A>G XP_006721579.2:p.Glu199=
XM_011523829.1:c.597A>G XP_011522131.1:p.Glu199=
XM_011523830.1:c.597A>G XP_011522132.1:p.Glu199=
XR_934021.1:n.704A>G
XR_934022.1:n.704A>G
XR_934023.1:n.704A>G
XM_006721516.3:c.597A>G XP_006721579.2:p.Glu199=
XM_011523829.2:c.597A>G XP_011522131.1:p.Glu199=
XM_011523830.2:c.597A>G XP_011522132.1:p.Glu199=
XM_024450741.1:c.597A>G XP_024306509.1:p.Glu199=
XR_934021.2:n.656A>G
XR_934022.2:n.656A>G
XR_934023.2:n.656A>G
NM_000018.4:c.597A>G MANE Select NP_000009.1:p.Glu199=
NM_001033859.3:c.531A>G NP_001029031.1:p.Glu177=
NM_001270447.2:c.666A>G NP_001257376.1:p.Glu222=
NM_001270448.2:c.369A>G NP_001257377.1:p.Glu123=
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