Canonical Allele Identifier: CA397724231
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1037718
ClinVar RCV Id: RCV001340911
dbSNP Id: rs1567565733
MyVariant Identifiers: chr17:g.7126152G>C (hg19) chr17:g.7222833G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222833G>C , CM000679.2:g.7222833G>C GRCh38
NC_000017.10:g.7126152G>C , CM000679.1:g.7126152G>C GRCh37
NC_000017.9:g.7066876G>C NCBI36
NG_007975.1:g.8000G>C
NG_008391.2:g.2218C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1045G>C MANE Select ENSP00000349297.5:p.Ala349Pro
ENST00000322910.9:c.*1000G>C ENSP00000325395.5:n.*1000G>C
ENST00000350303.9:c.979G>C ENSP00000344152.5:p.Ala327Pro
ENST00000356839.9:c.1045G>C ENSP00000349297.5:p.Ala349Pro
ENST00000543245.6:c.1114G>C ENSP00000438689.2:p.Ala372Pro
ENST00000578824.5:n.194G>C
ENST00000582379.1:n.429G>C
ENST00000583858.5:c.74G>C
NM_000018.3:c.1045G>C NP_000009.1:p.Ala349Pro
NM_001033859.2:c.979G>C NP_001029031.1:p.Ala327Pro
NM_001270447.1:c.1114G>C NP_001257376.1:p.Ala372Pro
NM_001270448.1:c.817G>C NP_001257377.1:p.Ala273Pro
XM_006721516.2:c.1045G>C XP_006721579.2:p.Ala349Pro
XM_011523829.1:c.1045G>C XP_011522131.1:p.Ala349Pro
XM_011523830.1:c.1045G>C XP_011522132.1:p.Ala349Pro
XR_934021.1:n.1152G>C
XR_934022.1:n.1152G>C
XR_934023.1:n.1152G>C
XM_006721516.3:c.1045G>C XP_006721579.2:p.Ala349Pro
XM_011523829.2:c.1045G>C XP_011522131.1:p.Ala349Pro
XM_011523830.2:c.1045G>C XP_011522132.1:p.Ala349Pro
XM_024450741.1:c.1045G>C XP_024306509.1:p.Ala349Pro
XR_934021.2:n.1104G>C
XR_934022.2:n.1104G>C
XR_934023.2:n.1104G>C
NM_000018.4:c.1045G>C MANE Select NP_000009.1:p.Ala349Pro
NM_001033859.3:c.979G>C NP_001029031.1:p.Ala327Pro
NM_001270447.2:c.1114G>C NP_001257376.1:p.Ala372Pro
NM_001270448.2:c.817G>C NP_001257377.1:p.Ala273Pro
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