Canonical Allele Identifier: CA397725155
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127480C>A (hg19) chr17:g.7224161C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224161C>A , CM000679.2:g.7224161C>A GRCh38
NC_000017.10:g.7127480C>A , CM000679.1:g.7127480C>A GRCh37
NC_000017.9:g.7068204C>A NCBI36
NG_007975.1:g.9328C>A
NG_008391.2:g.890G>T
NG_033038.1:g.15384G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1450C>A MANE Select ENSP00000349297.5:p.Leu484Ile
ENST00000322910.9:c.*1405C>A ENSP00000325395.5:n.*1405C>A
ENST00000350303.9:c.1384C>A ENSP00000344152.5:p.Leu462Ile
ENST00000356839.9:c.1450C>A ENSP00000349297.5:p.Leu484Ile
ENST00000542255.6:c.308C>A
ENST00000543245.6:c.1519C>A ENSP00000438689.2:p.Leu507Ile
ENST00000578711.1:n.657C>A
ENST00000579391.1:n.58C>A
ENST00000579425.5:n.566C>A
ENST00000579546.1:c.271+92C>A
ENST00000579894.5:n.237C>A
ENST00000583074.5:n.153+92C>A
ENST00000583850.5:n.225C>A
ENST00000583858.5:c.463+92C>A
ENST00000585203.6:n.641C>A
NM_000018.3:c.1450C>A NP_000009.1:p.Leu484Ile
NM_001033859.2:c.1384C>A NP_001029031.1:p.Leu462Ile
NM_001270447.1:c.1519C>A NP_001257376.1:p.Leu507Ile
NM_001270448.1:c.1222C>A NP_001257377.1:p.Leu408Ile
XM_006721516.2:c.1450C>A XP_006721579.2:p.Leu484Ile
XM_011523829.1:c.1434+92C>A XP_011522131.1:n.1434+92C>A
XM_011523830.1:c.1434+92C>A XP_011522132.1:n.1434+92C>A
XR_934021.1:n.1557C>A
XR_934022.1:n.1541+92C>A
XR_934023.1:n.1541+92C>A
XM_006721516.3:c.1450C>A XP_006721579.2:p.Leu484Ile
XM_011523829.2:c.1434+92C>A XP_011522131.1:n.1434+92C>A
XM_011523830.2:c.1434+92C>A XP_011522132.1:n.1434+92C>A
XM_024450741.1:c.1434+92C>A XP_024306509.1:n.1434+92C>A
XR_934021.2:n.1509C>A
XR_934022.2:n.1493+92C>A
XR_934023.2:n.1493+92C>A
NM_000018.4:c.1450C>A MANE Select NP_000009.1:p.Leu484Ile
NM_001033859.3:c.1384C>A NP_001029031.1:p.Leu462Ile
NM_001270447.2:c.1519C>A NP_001257376.1:p.Leu507Ile
NM_001270448.2:c.1222C>A NP_001257377.1:p.Leu408Ile
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