Canonical Allele Identifier: CA397723340
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1402305
ClinVar RCV Id: RCV001925081
dbSNP Id: rs772055899
gnomAD v4: 17-7221954-G-C
MyVariant Identifiers: chr17:g.7125273G>C (hg19) chr17:g.7221954G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221954G>C , CM000679.2:g.7221954G>C GRCh38
NC_000017.10:g.7125273G>C , CM000679.1:g.7125273G>C GRCh37
NC_000017.9:g.7065997G>C NCBI36
NG_007975.1:g.7121G>C
NG_008391.2:g.3097C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.625G>C MANE Select ENSP00000349297.5:p.Glu209Gln
ENST00000322910.9:c.*580G>C ENSP00000325395.5:n.*580G>C
ENST00000350303.9:c.559G>C ENSP00000344152.5:p.Glu187Gln
ENST00000356839.9:c.625G>C ENSP00000349297.5:p.Glu209Gln
ENST00000543245.6:c.694G>C ENSP00000438689.2:p.Glu232Gln
ENST00000577191.5:n.702G>C
ENST00000577857.5:n.441G>C
ENST00000579286.5:n.806G>C
ENST00000579886.2:c.463G>C ENSP00000463246.1:p.Glu155Gln
ENST00000580365.1:n.356G>C
ENST00000581378.5:c.343G>C
ENST00000581562.5:n.527G>C
ENST00000582379.1:n.9G>C
ENST00000583312.5:c.640G>C ENSP00000467920.1:p.Glu214Gln
ENST00000583760.1:n.407G>C
NM_000018.3:c.625G>C NP_000009.1:p.Glu209Gln
NM_001033859.2:c.559G>C NP_001029031.1:p.Glu187Gln
NM_001270447.1:c.694G>C NP_001257376.1:p.Glu232Gln
NM_001270448.1:c.397G>C NP_001257377.1:p.Glu133Gln
XM_006721516.2:c.625G>C XP_006721579.2:p.Glu209Gln
XM_011523829.1:c.625G>C XP_011522131.1:p.Glu209Gln
XM_011523830.1:c.625G>C XP_011522132.1:p.Glu209Gln
XR_934021.1:n.732G>C
XR_934022.1:n.732G>C
XR_934023.1:n.732G>C
XM_006721516.3:c.625G>C XP_006721579.2:p.Glu209Gln
XM_011523829.2:c.625G>C XP_011522131.1:p.Glu209Gln
XM_011523830.2:c.625G>C XP_011522132.1:p.Glu209Gln
XM_024450741.1:c.625G>C XP_024306509.1:p.Glu209Gln
XR_934021.2:n.684G>C
XR_934022.2:n.684G>C
XR_934023.2:n.684G>C
NM_000018.4:c.625G>C MANE Select NP_000009.1:p.Glu209Gln
NM_001033859.3:c.559G>C NP_001029031.1:p.Glu187Gln
NM_001270447.2:c.694G>C NP_001257376.1:p.Glu232Gln
NM_001270448.2:c.397G>C NP_001257377.1:p.Glu133Gln
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