Canonical Allele Identifier: CA397723225
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124969A>C (hg19) chr17:g.7221650A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221650A>C , CM000679.2:g.7221650A>C GRCh38
NC_000017.10:g.7124969A>C , CM000679.1:g.7124969A>C GRCh37
NC_000017.9:g.7065693A>C NCBI36
NG_007975.1:g.6817A>C
NG_008391.2:g.3401T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.590A>C MANE Select ENSP00000349297.5:p.Gln197Pro
ENST00000322910.9:c.*545A>C ENSP00000325395.5:n.*545A>C
ENST00000350303.9:c.524A>C ENSP00000344152.5:p.Gln175Pro
ENST00000356839.9:c.590A>C ENSP00000349297.5:p.Gln197Pro
ENST00000543245.6:c.659A>C ENSP00000438689.2:p.Gln220Pro
ENST00000577191.5:n.667A>C
ENST00000577433.5:n.798A>C
ENST00000577857.5:n.406A>C
ENST00000579286.5:n.771A>C
ENST00000579886.2:c.428A>C ENSP00000463246.1:p.Gln143Pro
ENST00000580365.1:n.321A>C
ENST00000581378.5:c.308A>C
ENST00000581562.5:n.525-302A>C
ENST00000583312.5:c.590A>C ENSP00000467920.1:p.Gln197Pro
ENST00000583760.1:n.372A>C
NM_000018.3:c.590A>C NP_000009.1:p.Gln197Pro
NM_001033859.2:c.524A>C NP_001029031.1:p.Gln175Pro
NM_001270447.1:c.659A>C NP_001257376.1:p.Gln220Pro
NM_001270448.1:c.362A>C NP_001257377.1:p.Gln121Pro
XM_006721516.2:c.590A>C XP_006721579.2:p.Gln197Pro
XM_011523829.1:c.590A>C XP_011522131.1:p.Gln197Pro
XM_011523830.1:c.590A>C XP_011522132.1:p.Gln197Pro
XR_934021.1:n.697A>C
XR_934022.1:n.697A>C
XR_934023.1:n.697A>C
XM_006721516.3:c.590A>C XP_006721579.2:p.Gln197Pro
XM_011523829.2:c.590A>C XP_011522131.1:p.Gln197Pro
XM_011523830.2:c.590A>C XP_011522132.1:p.Gln197Pro
XM_024450741.1:c.590A>C XP_024306509.1:p.Gln197Pro
XR_934021.2:n.649A>C
XR_934022.2:n.649A>C
XR_934023.2:n.649A>C
NM_000018.4:c.590A>C MANE Select NP_000009.1:p.Gln197Pro
NM_001033859.3:c.524A>C NP_001029031.1:p.Gln175Pro
NM_001270447.2:c.659A>C NP_001257376.1:p.Gln220Pro
NM_001270448.2:c.362A>C NP_001257377.1:p.Gln121Pro
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