Canonical Allele Identifier: CA497693993
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1980563
ClinVar RCV Id: RCV002761438
dbSNP Id: rs2071252641
MyVariant Identifiers: chr17:g.7125293T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221974T>C , CM000679.2:g.7221974T>C GRCh38
NC_000017.10:g.7125293T>C , CM000679.1:g.7125293T>C GRCh37
NC_000017.9:g.7066017T>C NCBI36
NG_007975.1:g.7141T>C
NG_008391.2:g.3077A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.645T>C MANE Select ENSP00000349297.5:p.Cys215=
ENST00000322910.9:c.*600T>C ENSP00000325395.5:n.*600T>C
ENST00000350303.9:c.579T>C ENSP00000344152.5:p.Cys193=
ENST00000356839.9:c.645T>C ENSP00000349297.5:p.Cys215=
ENST00000543245.6:c.714T>C ENSP00000438689.2:p.Cys238=
ENST00000577191.5:n.722T>C
ENST00000577857.5:n.461T>C
ENST00000579286.5:n.826T>C
ENST00000580365.1:n.376T>C
ENST00000581378.5:c.363T>C
ENST00000581562.5:n.547T>C
ENST00000582379.1:n.29T>C
ENST00000583312.5:c.660T>C ENSP00000467920.1:p.Cys220=
ENST00000583760.1:n.427T>C
NM_000018.3:c.645T>C NP_000009.1:p.Cys215=
NM_001033859.2:c.579T>C NP_001029031.1:p.Cys193=
NM_001270447.1:c.714T>C NP_001257376.1:p.Cys238=
NM_001270448.1:c.417T>C NP_001257377.1:p.Cys139=
XM_006721516.2:c.645T>C XP_006721579.2:p.Cys215=
XM_011523829.1:c.645T>C XP_011522131.1:p.Cys215=
XM_011523830.1:c.645T>C XP_011522132.1:p.Cys215=
XR_934021.1:n.752T>C
XR_934022.1:n.752T>C
XR_934023.1:n.752T>C
XM_006721516.3:c.645T>C XP_006721579.2:p.Cys215=
XM_011523829.2:c.645T>C XP_011522131.1:p.Cys215=
XM_011523830.2:c.645T>C XP_011522132.1:p.Cys215=
XM_024450741.1:c.645T>C XP_024306509.1:p.Cys215=
XR_934021.2:n.704T>C
XR_934022.2:n.704T>C
XR_934023.2:n.704T>C
NM_000018.4:c.645T>C MANE Select NP_000009.1:p.Cys215=
NM_001033859.3:c.579T>C NP_001029031.1:p.Cys193=
NM_001270447.2:c.714T>C NP_001257376.1:p.Cys238=
NM_001270448.2:c.417T>C NP_001257377.1:p.Cys139=
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