Canonical Allele Identifier: CA397725081
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127378A>T (hg19) chr17:g.7224059A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224059A>T , CM000679.2:g.7224059A>T GRCh38
NC_000017.10:g.7127378A>T , CM000679.1:g.7127378A>T GRCh37
NC_000017.9:g.7068102A>T NCBI36
NG_007975.1:g.9226A>T
NG_008391.2:g.992T>A
NG_033038.1:g.15486T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1424A>T MANE Select ENSP00000349297.5:p.Gln475Leu
ENST00000322910.9:c.*1379A>T ENSP00000325395.5:n.*1379A>T
ENST00000350303.9:c.1358A>T ENSP00000344152.5:p.Gln453Leu
ENST00000356839.9:c.1424A>T ENSP00000349297.5:p.Gln475Leu
ENST00000542255.6:c.282A>T
ENST00000543245.6:c.1493A>T ENSP00000438689.2:p.Gln498Leu
ENST00000578711.1:n.555A>T
ENST00000579425.5:n.540A>T
ENST00000579546.1:c.261A>T
ENST00000579894.5:n.135A>T
ENST00000583074.5:n.143A>T
ENST00000583850.5:n.199A>T
ENST00000583858.5:c.453A>T
ENST00000585203.6:n.615A>T
NM_000018.3:c.1424A>T NP_000009.1:p.Gln475Leu
NM_001033859.2:c.1358A>T NP_001029031.1:p.Gln453Leu
NM_001270447.1:c.1493A>T NP_001257376.1:p.Gln498Leu
NM_001270448.1:c.1196A>T NP_001257377.1:p.Gln399Leu
XM_006721516.2:c.1424A>T XP_006721579.2:p.Gln475Leu
XM_011523829.1:c.1424A>T XP_011522131.1:p.Gln475Leu
XM_011523830.1:c.1424A>T XP_011522132.1:p.Gln475Leu
XR_934021.1:n.1531A>T
XR_934022.1:n.1531A>T
XR_934023.1:n.1531A>T
XM_006721516.3:c.1424A>T XP_006721579.2:p.Gln475Leu
XM_011523829.2:c.1424A>T XP_011522131.1:p.Gln475Leu
XM_011523830.2:c.1424A>T XP_011522132.1:p.Gln475Leu
XM_024450741.1:c.1424A>T XP_024306509.1:p.Gln475Leu
XR_934021.2:n.1483A>T
XR_934022.2:n.1483A>T
XR_934023.2:n.1483A>T
NM_000018.4:c.1424A>T MANE Select NP_000009.1:p.Gln475Leu
NM_001033859.3:c.1358A>T NP_001029031.1:p.Gln453Leu
NM_001270447.2:c.1493A>T NP_001257376.1:p.Gln498Leu
NM_001270448.2:c.1196A>T NP_001257377.1:p.Gln399Leu
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