Canonical Allele Identifier: CA397725194
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127501C>A (hg19) chr17:g.7224182C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224182C>A , CM000679.2:g.7224182C>A GRCh38
NC_000017.10:g.7127501C>A , CM000679.1:g.7127501C>A GRCh37
NC_000017.9:g.7068225C>A NCBI36
NG_007975.1:g.9349C>A
NG_008391.2:g.869G>T
NG_033038.1:g.15363G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1471C>A MANE Select ENSP00000349297.5:p.Leu491Ile
ENST00000322910.9:c.*1426C>A ENSP00000325395.5:n.*1426C>A
ENST00000350303.9:c.1405C>A ENSP00000344152.5:p.Leu469Ile
ENST00000356839.9:c.1471C>A ENSP00000349297.5:p.Leu491Ile
ENST00000542255.6:c.329C>A
ENST00000543245.6:c.1540C>A ENSP00000438689.2:p.Leu514Ile
ENST00000578711.1:n.678C>A
ENST00000579391.1:n.79C>A
ENST00000579425.5:n.587C>A
ENST00000579546.1:c.271+113C>A
ENST00000579894.5:n.258C>A
ENST00000583074.5:n.153+113C>A
ENST00000583850.5:n.246C>A
ENST00000583858.5:c.463+113C>A
ENST00000585203.6:n.662C>A
NM_000018.3:c.1471C>A NP_000009.1:p.Leu491Ile
NM_001033859.2:c.1405C>A NP_001029031.1:p.Leu469Ile
NM_001270447.1:c.1540C>A NP_001257376.1:p.Leu514Ile
NM_001270448.1:c.1243C>A NP_001257377.1:p.Leu415Ile
XM_006721516.2:c.1471C>A XP_006721579.2:p.Leu491Ile
XM_011523829.1:c.1434+113C>A XP_011522131.1:n.1434+113C>A
XM_011523830.1:c.1434+113C>A XP_011522132.1:n.1434+113C>A
XR_934021.1:n.1578C>A
XR_934022.1:n.1541+113C>A
XR_934023.1:n.1541+113C>A
XM_006721516.3:c.1471C>A XP_006721579.2:p.Leu491Ile
XM_011523829.2:c.1434+113C>A XP_011522131.1:n.1434+113C>A
XM_011523830.2:c.1434+113C>A XP_011522132.1:n.1434+113C>A
XM_024450741.1:c.1434+113C>A XP_024306509.1:n.1434+113C>A
XR_934021.2:n.1530C>A
XR_934022.2:n.1493+113C>A
XR_934023.2:n.1493+113C>A
NM_000018.4:c.1471C>A MANE Select NP_000009.1:p.Leu491Ile
NM_001033859.3:c.1405C>A NP_001029031.1:p.Leu469Ile
NM_001270447.2:c.1540C>A NP_001257376.1:p.Leu514Ile
NM_001270448.2:c.1243C>A NP_001257377.1:p.Leu415Ile
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