Canonical Allele Identifier: CA397723386
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125295T>A (hg19) chr17:g.7221976T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221976T>A , CM000679.2:g.7221976T>A GRCh38
NC_000017.10:g.7125295T>A , CM000679.1:g.7125295T>A GRCh37
NC_000017.9:g.7066019T>A NCBI36
NG_007975.1:g.7143T>A
NG_008391.2:g.3075A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.647T>A MANE Select ENSP00000349297.5:p.Leu216Gln
ENST00000322910.9:c.*602T>A ENSP00000325395.5:n.*602T>A
ENST00000350303.9:c.581T>A ENSP00000344152.5:p.Leu194Gln
ENST00000356839.9:c.647T>A ENSP00000349297.5:p.Leu216Gln
ENST00000543245.6:c.716T>A ENSP00000438689.2:p.Leu239Gln
ENST00000577191.5:n.724T>A
ENST00000577857.5:n.463T>A
ENST00000579286.5:n.828T>A
ENST00000580365.1:n.378T>A
ENST00000581378.5:c.365T>A
ENST00000581562.5:n.549T>A
ENST00000582379.1:n.31T>A
ENST00000583312.5:c.662T>A ENSP00000467920.1:p.Leu221Gln
ENST00000583760.1:n.429T>A
NM_000018.3:c.647T>A NP_000009.1:p.Leu216Gln
NM_001033859.2:c.581T>A NP_001029031.1:p.Leu194Gln
NM_001270447.1:c.716T>A NP_001257376.1:p.Leu239Gln
NM_001270448.1:c.419T>A NP_001257377.1:p.Leu140Gln
XM_006721516.2:c.647T>A XP_006721579.2:p.Leu216Gln
XM_011523829.1:c.647T>A XP_011522131.1:p.Leu216Gln
XM_011523830.1:c.647T>A XP_011522132.1:p.Leu216Gln
XR_934021.1:n.754T>A
XR_934022.1:n.754T>A
XR_934023.1:n.754T>A
XM_006721516.3:c.647T>A XP_006721579.2:p.Leu216Gln
XM_011523829.2:c.647T>A XP_011522131.1:p.Leu216Gln
XM_011523830.2:c.647T>A XP_011522132.1:p.Leu216Gln
XM_024450741.1:c.647T>A XP_024306509.1:p.Leu216Gln
XR_934021.2:n.706T>A
XR_934022.2:n.706T>A
XR_934023.2:n.706T>A
NM_000018.4:c.647T>A MANE Select NP_000009.1:p.Leu216Gln
NM_001033859.3:c.581T>A NP_001029031.1:p.Leu194Gln
NM_001270447.2:c.716T>A NP_001257376.1:p.Leu239Gln
NM_001270448.2:c.419T>A NP_001257377.1:p.Leu140Gln
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