Canonical Allele Identifier: CA497693781
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124949G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221630G>T , CM000679.2:g.7221630G>T GRCh38
NC_000017.10:g.7124949G>T , CM000679.1:g.7124949G>T GRCh37
NC_000017.9:g.7065673G>T NCBI36
NG_007975.1:g.6797G>T
NG_008391.2:g.3421C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.570G>T MANE Select ENSP00000349297.5:p.Leu190=
ENST00000322910.9:c.*525G>T ENSP00000325395.5:n.*525G>T
ENST00000350303.9:c.504G>T ENSP00000344152.5:p.Leu168=
ENST00000356839.9:c.570G>T ENSP00000349297.5:p.Leu190=
ENST00000543245.6:c.639G>T ENSP00000438689.2:p.Leu213=
ENST00000577191.5:n.647G>T
ENST00000577433.5:n.778G>T
ENST00000577857.5:n.386G>T
ENST00000579286.5:n.751G>T
ENST00000579886.2:c.408G>T ENSP00000463246.1:p.Leu136=
ENST00000580365.1:n.301G>T
ENST00000581378.5:c.288G>T
ENST00000581562.5:n.525-322G>T
ENST00000583312.5:c.570G>T ENSP00000467920.1:p.Leu190=
ENST00000583760.1:n.352G>T
NM_000018.3:c.570G>T NP_000009.1:p.Leu190=
NM_001033859.2:c.504G>T NP_001029031.1:p.Leu168=
NM_001270447.1:c.639G>T NP_001257376.1:p.Leu213=
NM_001270448.1:c.342G>T NP_001257377.1:p.Leu114=
XM_006721516.2:c.570G>T XP_006721579.2:p.Leu190=
XM_011523829.1:c.570G>T XP_011522131.1:p.Leu190=
XM_011523830.1:c.570G>T XP_011522132.1:p.Leu190=
XR_934021.1:n.677G>T
XR_934022.1:n.677G>T
XR_934023.1:n.677G>T
XM_006721516.3:c.570G>T XP_006721579.2:p.Leu190=
XM_011523829.2:c.570G>T XP_011522131.1:p.Leu190=
XM_011523830.2:c.570G>T XP_011522132.1:p.Leu190=
XM_024450741.1:c.570G>T XP_024306509.1:p.Leu190=
XR_934021.2:n.629G>T
XR_934022.2:n.629G>T
XR_934023.2:n.629G>T
NM_000018.4:c.570G>T MANE Select NP_000009.1:p.Leu190=
NM_001033859.3:c.504G>T NP_001029031.1:p.Leu168=
NM_001270447.2:c.639G>T NP_001257376.1:p.Leu213=
NM_001270448.2:c.342G>T NP_001257377.1:p.Leu114=
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