Canonical Allele Identifier: CA397723566
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125384A>C (hg19) chr17:g.7222065A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222065A>C , CM000679.2:g.7222065A>C GRCh38
NC_000017.10:g.7125384A>C , CM000679.1:g.7125384A>C GRCh37
NC_000017.9:g.7066108A>C NCBI36
NG_007975.1:g.7232A>C
NG_008391.2:g.2986T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.736A>C MANE Select ENSP00000349297.5:p.Ser246Arg
ENST00000322910.9:c.*691A>C ENSP00000325395.5:n.*691A>C
ENST00000350303.9:c.670A>C ENSP00000344152.5:p.Ser224Arg
ENST00000356839.9:c.736A>C ENSP00000349297.5:p.Ser246Arg
ENST00000543245.6:c.805A>C ENSP00000438689.2:p.Ser269Arg
ENST00000577191.5:n.813A>C
ENST00000577857.5:n.552A>C
ENST00000579286.5:n.917A>C
ENST00000580365.1:n.467A>C
ENST00000581378.5:c.454A>C
ENST00000582379.1:n.120A>C
ENST00000583760.1:n.518A>C
NM_000018.3:c.736A>C NP_000009.1:p.Ser246Arg
NM_001033859.2:c.670A>C NP_001029031.1:p.Ser224Arg
NM_001270447.1:c.805A>C NP_001257376.1:p.Ser269Arg
NM_001270448.1:c.508A>C NP_001257377.1:p.Ser170Arg
XM_006721516.2:c.736A>C XP_006721579.2:p.Ser246Arg
XM_011523829.1:c.736A>C XP_011522131.1:p.Ser246Arg
XM_011523830.1:c.736A>C XP_011522132.1:p.Ser246Arg
XR_934021.1:n.843A>C
XR_934022.1:n.843A>C
XR_934023.1:n.843A>C
XM_006721516.3:c.736A>C XP_006721579.2:p.Ser246Arg
XM_011523829.2:c.736A>C XP_011522131.1:p.Ser246Arg
XM_011523830.2:c.736A>C XP_011522132.1:p.Ser246Arg
XM_024450741.1:c.736A>C XP_024306509.1:p.Ser246Arg
XR_934021.2:n.795A>C
XR_934022.2:n.795A>C
XR_934023.2:n.795A>C
NM_000018.4:c.736A>C MANE Select NP_000009.1:p.Ser246Arg
NM_001033859.3:c.670A>C NP_001029031.1:p.Ser224Arg
NM_001270447.2:c.805A>C NP_001257376.1:p.Ser269Arg
NM_001270448.2:c.508A>C NP_001257377.1:p.Ser170Arg
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