Canonical Allele Identifier: CA497620190
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126031A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222712A>C , CM000679.2:g.7222712A>C GRCh38
NC_000017.10:g.7126031A>C , CM000679.1:g.7126031A>C GRCh37
NC_000017.9:g.7066755A>C NCBI36
NG_007975.1:g.7879A>C
NG_008391.2:g.2339T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.924A>C MANE Select ENSP00000349297.5:p.Ala308=
ENST00000322910.9:c.*879A>C ENSP00000325395.5:n.*879A>C
ENST00000350303.9:c.858A>C ENSP00000344152.5:p.Ala286=
ENST00000356839.9:c.924A>C ENSP00000349297.5:p.Ala308=
ENST00000543245.6:c.993A>C ENSP00000438689.2:p.Ala331=
ENST00000578824.5:n.73A>C
ENST00000581378.5:c.642A>C
ENST00000582379.1:n.308A>C
NM_000018.3:c.924A>C NP_000009.1:p.Ala308=
NM_001033859.2:c.858A>C NP_001029031.1:p.Ala286=
NM_001270447.1:c.993A>C NP_001257376.1:p.Ala331=
NM_001270448.1:c.696A>C NP_001257377.1:p.Ala232=
XM_006721516.2:c.924A>C XP_006721579.2:p.Ala308=
XM_011523829.1:c.924A>C XP_011522131.1:p.Ala308=
XM_011523830.1:c.924A>C XP_011522132.1:p.Ala308=
XR_934021.1:n.1031A>C
XR_934022.1:n.1031A>C
XR_934023.1:n.1031A>C
XM_006721516.3:c.924A>C XP_006721579.2:p.Ala308=
XM_011523829.2:c.924A>C XP_011522131.1:p.Ala308=
XM_011523830.2:c.924A>C XP_011522132.1:p.Ala308=
XM_024450741.1:c.924A>C XP_024306509.1:p.Ala308=
XR_934021.2:n.983A>C
XR_934022.2:n.983A>C
XR_934023.2:n.983A>C
NM_000018.4:c.924A>C MANE Select NP_000009.1:p.Ala308=
NM_001033859.3:c.858A>C NP_001029031.1:p.Ala286=
NM_001270447.2:c.993A>C NP_001257376.1:p.Ala331=
NM_001270448.2:c.696A>C NP_001257377.1:p.Ala232=
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