Canonical Allele Identifier: CA397723234
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124972A>T (hg19) chr17:g.7221653A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221653A>T , CM000679.2:g.7221653A>T GRCh38
NC_000017.10:g.7124972A>T , CM000679.1:g.7124972A>T GRCh37
NC_000017.9:g.7065696A>T NCBI36
NG_007975.1:g.6820A>T
NG_008391.2:g.3398T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.593A>T MANE Select ENSP00000349297.5:p.Lys198Ile
ENST00000322910.9:c.*548A>T ENSP00000325395.5:n.*548A>T
ENST00000350303.9:c.527A>T ENSP00000344152.5:p.Lys176Ile
ENST00000356839.9:c.593A>T ENSP00000349297.5:p.Lys198Ile
ENST00000543245.6:c.662A>T ENSP00000438689.2:p.Lys221Ile
ENST00000577191.5:n.670A>T
ENST00000577433.5:n.801A>T
ENST00000577857.5:n.409A>T
ENST00000579286.5:n.774A>T
ENST00000579886.2:c.431A>T ENSP00000463246.1:p.Lys144Ile
ENST00000580365.1:n.324A>T
ENST00000581378.5:c.311A>T
ENST00000581562.5:n.525-299A>T
ENST00000583312.5:c.593A>T ENSP00000467920.1:p.Lys198Ile
ENST00000583760.1:n.375A>T
NM_000018.3:c.593A>T NP_000009.1:p.Lys198Ile
NM_001033859.2:c.527A>T NP_001029031.1:p.Lys176Ile
NM_001270447.1:c.662A>T NP_001257376.1:p.Lys221Ile
NM_001270448.1:c.365A>T NP_001257377.1:p.Lys122Ile
XM_006721516.2:c.593A>T XP_006721579.2:p.Lys198Ile
XM_011523829.1:c.593A>T XP_011522131.1:p.Lys198Ile
XM_011523830.1:c.593A>T XP_011522132.1:p.Lys198Ile
XR_934021.1:n.700A>T
XR_934022.1:n.700A>T
XR_934023.1:n.700A>T
XM_006721516.3:c.593A>T XP_006721579.2:p.Lys198Ile
XM_011523829.2:c.593A>T XP_011522131.1:p.Lys198Ile
XM_011523830.2:c.593A>T XP_011522132.1:p.Lys198Ile
XM_024450741.1:c.593A>T XP_024306509.1:p.Lys198Ile
XR_934021.2:n.652A>T
XR_934022.2:n.652A>T
XR_934023.2:n.652A>T
NM_000018.4:c.593A>T MANE Select NP_000009.1:p.Lys198Ile
NM_001033859.3:c.527A>T NP_001029031.1:p.Lys176Ile
NM_001270447.2:c.662A>T NP_001257376.1:p.Lys221Ile
NM_001270448.2:c.365A>T NP_001257377.1:p.Lys122Ile
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