Canonical Allele Identifier: CA497694312
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127536A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224217A>C , CM000679.2:g.7224217A>C GRCh38
NC_000017.10:g.7127536A>C , CM000679.1:g.7127536A>C GRCh37
NC_000017.9:g.7068260A>C NCBI36
NG_007975.1:g.9384A>C
NG_008391.2:g.834T>G
NG_033038.1:g.15328T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1506A>C MANE Select ENSP00000349297.5:p.Leu502=
ENST00000322910.9:c.*1461A>C ENSP00000325395.5:n.*1461A>C
ENST00000350303.9:c.1440A>C ENSP00000344152.5:p.Leu480=
ENST00000356839.9:c.1506A>C ENSP00000349297.5:p.Leu502=
ENST00000542255.6:c.364A>C
ENST00000543245.6:c.1575A>C ENSP00000438689.2:p.Leu525=
ENST00000578319.5:n.1A>C
ENST00000578711.1:n.713A>C
ENST00000578809.5:n.1A>C
ENST00000579391.1:n.114A>C
ENST00000579425.5:n.622A>C
ENST00000579546.1:c.272-104A>C
ENST00000579894.5:n.293A>C
ENST00000583074.5:n.154-104A>C
ENST00000583850.5:n.281A>C
ENST00000583858.5:c.464-104A>C
ENST00000585203.6:n.697A>C
NM_000018.3:c.1506A>C NP_000009.1:p.Leu502=
NM_001033859.2:c.1440A>C NP_001029031.1:p.Leu480=
NM_001270447.1:c.1575A>C NP_001257376.1:p.Leu525=
NM_001270448.1:c.1278A>C NP_001257377.1:p.Leu426=
XM_006721516.2:c.1506A>C XP_006721579.2:p.Leu502=
XM_011523829.1:c.1435-104A>C XP_011522131.1:n.1435-104A>C
XM_011523830.1:c.1435-104A>C XP_011522132.1:n.1435-104A>C
XR_934021.1:n.1613A>C
XR_934022.1:n.1542-104A>C
XR_934023.1:n.1542-104A>C
XM_006721516.3:c.1506A>C XP_006721579.2:p.Leu502=
XM_011523829.2:c.1435-104A>C XP_011522131.1:n.1435-104A>C
XM_011523830.2:c.1435-104A>C XP_011522132.1:n.1435-104A>C
XM_024450741.1:c.1435-104A>C XP_024306509.1:n.1435-104A>C
XR_934021.2:n.1565A>C
XR_934022.2:n.1494-104A>C
XR_934023.2:n.1494-104A>C
NM_000018.4:c.1506A>C MANE Select NP_000009.1:p.Leu502=
NM_001033859.3:c.1440A>C NP_001029031.1:p.Leu480=
NM_001270447.2:c.1575A>C NP_001257376.1:p.Leu525=
NM_001270448.2:c.1278A>C NP_001257377.1:p.Leu426=
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