Canonical Allele Identifier: CA397723423
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 3021289
ClinVar RCV Id: RCV003872432
MyVariant Identifiers: chr17:g.7125313G>C (hg19) chr17:g.7221994G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221994G>C , CM000679.2:g.7221994G>C GRCh38
NC_000017.10:g.7125313G>C , CM000679.1:g.7125313G>C GRCh37
NC_000017.9:g.7066037G>C NCBI36
NG_007975.1:g.7161G>C
NG_008391.2:g.3057C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.665G>C MANE Select ENSP00000349297.5:p.Gly222Ala
ENST00000322910.9:c.*620G>C ENSP00000325395.5:n.*620G>C
ENST00000350303.9:c.599G>C ENSP00000344152.5:p.Gly200Ala
ENST00000356839.9:c.665G>C ENSP00000349297.5:p.Gly222Ala
ENST00000543245.6:c.734G>C ENSP00000438689.2:p.Gly245Ala
ENST00000577191.5:n.742G>C
ENST00000577857.5:n.481G>C
ENST00000579286.5:n.846G>C
ENST00000580365.1:n.396G>C
ENST00000581378.5:c.383G>C
ENST00000581562.5:n.567G>C
ENST00000582379.1:n.49G>C
ENST00000583760.1:n.447G>C
NM_000018.3:c.665G>C NP_000009.1:p.Gly222Ala
NM_001033859.2:c.599G>C NP_001029031.1:p.Gly200Ala
NM_001270447.1:c.734G>C NP_001257376.1:p.Gly245Ala
NM_001270448.1:c.437G>C NP_001257377.1:p.Gly146Ala
XM_006721516.2:c.665G>C XP_006721579.2:p.Gly222Ala
XM_011523829.1:c.665G>C XP_011522131.1:p.Gly222Ala
XM_011523830.1:c.665G>C XP_011522132.1:p.Gly222Ala
XR_934021.1:n.772G>C
XR_934022.1:n.772G>C
XR_934023.1:n.772G>C
XM_006721516.3:c.665G>C XP_006721579.2:p.Gly222Ala
XM_011523829.2:c.665G>C XP_011522131.1:p.Gly222Ala
XM_011523830.2:c.665G>C XP_011522132.1:p.Gly222Ala
XM_024450741.1:c.665G>C XP_024306509.1:p.Gly222Ala
XR_934021.2:n.724G>C
XR_934022.2:n.724G>C
XR_934023.2:n.724G>C
NM_000018.4:c.665G>C MANE Select NP_000009.1:p.Gly222Ala
NM_001033859.3:c.599G>C NP_001029031.1:p.Gly200Ala
NM_001270447.2:c.734G>C NP_001257376.1:p.Gly245Ala
NM_001270448.2:c.437G>C NP_001257377.1:p.Gly146Ala
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