Canonical Allele Identifier: CA397724702
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127036A>G (hg19) chr17:g.7223717A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223717A>G , CM000679.2:g.7223717A>G GRCh38
NC_000017.10:g.7127036A>G , CM000679.1:g.7127036A>G GRCh37
NC_000017.9:g.7067760A>G NCBI36
NG_007975.1:g.8884A>G
NG_008391.2:g.1334T>C
NG_033038.1:g.15828T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1256A>G MANE Select ENSP00000349297.5:p.Lys419Arg
ENST00000322910.9:c.*1211A>G ENSP00000325395.5:n.*1211A>G
ENST00000350303.9:c.1190A>G ENSP00000344152.5:p.Lys397Arg
ENST00000356839.9:c.1256A>G ENSP00000349297.5:p.Lys419Arg
ENST00000542255.6:c.114A>G
ENST00000543245.6:c.1325A>G ENSP00000438689.2:p.Lys442Arg
ENST00000578579.2:n.427A>G
ENST00000578711.1:n.213A>G
ENST00000578824.5:n.672A>G
ENST00000579425.5:n.280A>G
ENST00000579546.1:c.93A>G
ENST00000583850.5:n.31A>G
ENST00000583858.5:c.285A>G
ENST00000585203.6:n.464A>G
NM_000018.3:c.1256A>G NP_000009.1:p.Lys419Arg
NM_001033859.2:c.1190A>G NP_001029031.1:p.Lys397Arg
NM_001270447.1:c.1325A>G NP_001257376.1:p.Lys442Arg
NM_001270448.1:c.1028A>G NP_001257377.1:p.Lys343Arg
XM_006721516.2:c.1256A>G XP_006721579.2:p.Lys419Arg
XM_011523829.1:c.1256A>G XP_011522131.1:p.Lys419Arg
XM_011523830.1:c.1256A>G XP_011522132.1:p.Lys419Arg
XR_934021.1:n.1363A>G
XR_934022.1:n.1363A>G
XR_934023.1:n.1363A>G
XM_006721516.3:c.1256A>G XP_006721579.2:p.Lys419Arg
XM_011523829.2:c.1256A>G XP_011522131.1:p.Lys419Arg
XM_011523830.2:c.1256A>G XP_011522132.1:p.Lys419Arg
XM_024450741.1:c.1256A>G XP_024306509.1:p.Lys419Arg
XR_934021.2:n.1315A>G
XR_934022.2:n.1315A>G
XR_934023.2:n.1315A>G
NM_000018.4:c.1256A>G MANE Select NP_000009.1:p.Lys419Arg
NM_001033859.3:c.1190A>G NP_001029031.1:p.Lys397Arg
NM_001270447.2:c.1325A>G NP_001257376.1:p.Lys442Arg
NM_001270448.2:c.1028A>G NP_001257377.1:p.Lys343Arg
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