Canonical Allele Identifier: CA397724260
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126166A>C (hg19) chr17:g.7222847A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222847A>C , CM000679.2:g.7222847A>C GRCh38
NC_000017.10:g.7126166A>C , CM000679.1:g.7126166A>C GRCh37
NC_000017.9:g.7066890A>C NCBI36
NG_007975.1:g.8014A>C
NG_008391.2:g.2204T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1059A>C MANE Select ENSP00000349297.5:p.Arg353Ser
ENST00000322910.9:c.*1014A>C ENSP00000325395.5:n.*1014A>C
ENST00000350303.9:c.993A>C ENSP00000344152.5:p.Arg331Ser
ENST00000356839.9:c.1059A>C ENSP00000349297.5:p.Arg353Ser
ENST00000543245.6:c.1128A>C ENSP00000438689.2:p.Arg376Ser
ENST00000578824.5:n.208A>C
ENST00000582379.1:n.443A>C
ENST00000583858.5:c.88A>C
NM_000018.3:c.1059A>C NP_000009.1:p.Arg353Ser
NM_001033859.2:c.993A>C NP_001029031.1:p.Arg331Ser
NM_001270447.1:c.1128A>C NP_001257376.1:p.Arg376Ser
NM_001270448.1:c.831A>C NP_001257377.1:p.Arg277Ser
XM_006721516.2:c.1059A>C XP_006721579.2:p.Arg353Ser
XM_011523829.1:c.1059A>C XP_011522131.1:p.Arg353Ser
XM_011523830.1:c.1059A>C XP_011522132.1:p.Arg353Ser
XR_934021.1:n.1166A>C
XR_934022.1:n.1166A>C
XR_934023.1:n.1166A>C
XM_006721516.3:c.1059A>C XP_006721579.2:p.Arg353Ser
XM_011523829.2:c.1059A>C XP_011522131.1:p.Arg353Ser
XM_011523830.2:c.1059A>C XP_011522132.1:p.Arg353Ser
XM_024450741.1:c.1059A>C XP_024306509.1:p.Arg353Ser
XR_934021.2:n.1118A>C
XR_934022.2:n.1118A>C
XR_934023.2:n.1118A>C
NM_000018.4:c.1059A>C MANE Select NP_000009.1:p.Arg353Ser
NM_001033859.3:c.993A>C NP_001029031.1:p.Arg331Ser
NM_001270447.2:c.1128A>C NP_001257376.1:p.Arg376Ser
NM_001270448.2:c.831A>C NP_001257377.1:p.Arg277Ser
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