Canonical Allele Identifier: CA397723275
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124991G>T (hg19) chr17:g.7221672G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221672G>T , CM000679.2:g.7221672G>T GRCh38
NC_000017.10:g.7124991G>T , CM000679.1:g.7124991G>T GRCh37
NC_000017.9:g.7065715G>T NCBI36
NG_007975.1:g.6839G>T
NG_008391.2:g.3379C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.612G>T MANE Select ENSP00000349297.5:p.Lys204Asn
ENST00000322910.9:c.*567G>T ENSP00000325395.5:n.*567G>T
ENST00000350303.9:c.546G>T ENSP00000344152.5:p.Lys182Asn
ENST00000356839.9:c.612G>T ENSP00000349297.5:p.Lys204Asn
ENST00000543245.6:c.681G>T ENSP00000438689.2:p.Lys227Asn
ENST00000577191.5:n.689G>T
ENST00000577857.5:n.428G>T
ENST00000579286.5:n.793G>T
ENST00000579886.2:c.450G>T ENSP00000463246.1:p.Lys150Asn
ENST00000580365.1:n.343G>T
ENST00000581378.5:c.330G>T
ENST00000581562.5:n.525-280G>T
ENST00000583312.5:c.612G>T ENSP00000467920.1:p.Lys204Asn
ENST00000583760.1:n.394G>T
NM_000018.3:c.612G>T NP_000009.1:p.Lys204Asn
NM_001033859.2:c.546G>T NP_001029031.1:p.Lys182Asn
NM_001270447.1:c.681G>T NP_001257376.1:p.Lys227Asn
NM_001270448.1:c.384G>T NP_001257377.1:p.Lys128Asn
XM_006721516.2:c.612G>T XP_006721579.2:p.Lys204Asn
XM_011523829.1:c.612G>T XP_011522131.1:p.Lys204Asn
XM_011523830.1:c.612G>T XP_011522132.1:p.Lys204Asn
XR_934021.1:n.719G>T
XR_934022.1:n.719G>T
XR_934023.1:n.719G>T
XM_006721516.3:c.612G>T XP_006721579.2:p.Lys204Asn
XM_011523829.2:c.612G>T XP_011522131.1:p.Lys204Asn
XM_011523830.2:c.612G>T XP_011522132.1:p.Lys204Asn
XM_024450741.1:c.612G>T XP_024306509.1:p.Lys204Asn
XR_934021.2:n.671G>T
XR_934022.2:n.671G>T
XR_934023.2:n.671G>T
NM_000018.4:c.612G>T MANE Select NP_000009.1:p.Lys204Asn
NM_001033859.3:c.546G>T NP_001029031.1:p.Lys182Asn
NM_001270447.2:c.681G>T NP_001257376.1:p.Lys227Asn
NM_001270448.2:c.384G>T NP_001257377.1:p.Lys128Asn
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