Canonical Allele Identifier: CA497620217
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126073G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222754G>A , CM000679.2:g.7222754G>A GRCh38
NC_000017.10:g.7126073G>A , CM000679.1:g.7126073G>A GRCh37
NC_000017.9:g.7066797G>A NCBI36
NG_007975.1:g.7921G>A
NG_008391.2:g.2297C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.966G>A MANE Select ENSP00000349297.5:p.Val322=
ENST00000322910.9:c.*921G>A ENSP00000325395.5:n.*921G>A
ENST00000350303.9:c.900G>A ENSP00000344152.5:p.Val300=
ENST00000356839.9:c.966G>A ENSP00000349297.5:p.Val322=
ENST00000543245.6:c.1035G>A ENSP00000438689.2:p.Val345=
ENST00000578824.5:n.115G>A
ENST00000581378.5:c.684G>A
ENST00000582379.1:n.350G>A
NM_000018.3:c.966G>A NP_000009.1:p.Val322=
NM_001033859.2:c.900G>A NP_001029031.1:p.Val300=
NM_001270447.1:c.1035G>A NP_001257376.1:p.Val345=
NM_001270448.1:c.738G>A NP_001257377.1:p.Val246=
XM_006721516.2:c.966G>A XP_006721579.2:p.Val322=
XM_011523829.1:c.966G>A XP_011522131.1:p.Val322=
XM_011523830.1:c.966G>A XP_011522132.1:p.Val322=
XR_934021.1:n.1073G>A
XR_934022.1:n.1073G>A
XR_934023.1:n.1073G>A
XM_006721516.3:c.966G>A XP_006721579.2:p.Val322=
XM_011523829.2:c.966G>A XP_011522131.1:p.Val322=
XM_011523830.2:c.966G>A XP_011522132.1:p.Val322=
XM_024450741.1:c.966G>A XP_024306509.1:p.Val322=
XR_934021.2:n.1025G>A
XR_934022.2:n.1025G>A
XR_934023.2:n.1025G>A
NM_000018.4:c.966G>A MANE Select NP_000009.1:p.Val322=
NM_001033859.3:c.900G>A NP_001029031.1:p.Val300=
NM_001270447.2:c.1035G>A NP_001257376.1:p.Val345=
NM_001270448.2:c.738G>A NP_001257377.1:p.Val246=
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