Canonical Allele Identifier: CA397723248
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124978A>C (hg19) chr17:g.7221659A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221659A>C , CM000679.2:g.7221659A>C GRCh38
NC_000017.10:g.7124978A>C , CM000679.1:g.7124978A>C GRCh37
NC_000017.9:g.7065702A>C NCBI36
NG_007975.1:g.6826A>C
NG_008391.2:g.3392T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.599A>C MANE Select ENSP00000349297.5:p.Lys200Thr
ENST00000322910.9:c.*554A>C ENSP00000325395.5:n.*554A>C
ENST00000350303.9:c.533A>C ENSP00000344152.5:p.Lys178Thr
ENST00000356839.9:c.599A>C ENSP00000349297.5:p.Lys200Thr
ENST00000543245.6:c.668A>C ENSP00000438689.2:p.Lys223Thr
ENST00000577191.5:n.676A>C
ENST00000577857.5:n.415A>C
ENST00000579286.5:n.780A>C
ENST00000579886.2:c.437A>C ENSP00000463246.1:p.Lys146Thr
ENST00000580365.1:n.330A>C
ENST00000581378.5:c.317A>C
ENST00000581562.5:n.525-293A>C
ENST00000583312.5:c.599A>C ENSP00000467920.1:p.Lys200Thr
ENST00000583760.1:n.381A>C
NM_000018.3:c.599A>C NP_000009.1:p.Lys200Thr
NM_001033859.2:c.533A>C NP_001029031.1:p.Lys178Thr
NM_001270447.1:c.668A>C NP_001257376.1:p.Lys223Thr
NM_001270448.1:c.371A>C NP_001257377.1:p.Lys124Thr
XM_006721516.2:c.599A>C XP_006721579.2:p.Lys200Thr
XM_011523829.1:c.599A>C XP_011522131.1:p.Lys200Thr
XM_011523830.1:c.599A>C XP_011522132.1:p.Lys200Thr
XR_934021.1:n.706A>C
XR_934022.1:n.706A>C
XR_934023.1:n.706A>C
XM_006721516.3:c.599A>C XP_006721579.2:p.Lys200Thr
XM_011523829.2:c.599A>C XP_011522131.1:p.Lys200Thr
XM_011523830.2:c.599A>C XP_011522132.1:p.Lys200Thr
XM_024450741.1:c.599A>C XP_024306509.1:p.Lys200Thr
XR_934021.2:n.658A>C
XR_934022.2:n.658A>C
XR_934023.2:n.658A>C
NM_000018.4:c.599A>C MANE Select NP_000009.1:p.Lys200Thr
NM_001033859.3:c.533A>C NP_001029031.1:p.Lys178Thr
NM_001270447.2:c.668A>C NP_001257376.1:p.Lys223Thr
NM_001270448.2:c.371A>C NP_001257377.1:p.Lys124Thr
Search 100 bp 5'
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