Canonical Allele Identifier: CA497619692
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124862C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221543C>T , CM000679.2:g.7221543C>T GRCh38
NC_000017.10:g.7124862C>T , CM000679.1:g.7124862C>T GRCh37
NC_000017.9:g.7065586C>T NCBI36
NG_007975.1:g.6710C>T
NG_008391.2:g.3508G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.483C>T MANE Select ENSP00000349297.5:p.Ala161=
ENST00000322910.9:c.*438C>T ENSP00000325395.5:n.*438C>T
ENST00000350303.9:c.417C>T ENSP00000344152.5:p.Ala139=
ENST00000356839.9:c.483C>T ENSP00000349297.5:p.Ala161=
ENST00000543245.6:c.552C>T ENSP00000438689.2:p.Ala184=
ENST00000577191.5:n.560C>T
ENST00000577433.5:n.691C>T
ENST00000577857.5:n.299C>T
ENST00000579286.5:n.664C>T
ENST00000579886.2:c.321C>T ENSP00000463246.1:p.Ala107=
ENST00000580365.1:n.214C>T
ENST00000581378.5:c.201C>T
ENST00000581562.5:n.525-409C>T
ENST00000582166.1:n.464C>T
ENST00000583312.5:c.483C>T ENSP00000467920.1:p.Ala161=
ENST00000583760.1:n.265C>T
NM_000018.3:c.483C>T NP_000009.1:p.Ala161=
NM_001033859.2:c.417C>T NP_001029031.1:p.Ala139=
NM_001270447.1:c.552C>T NP_001257376.1:p.Ala184=
NM_001270448.1:c.255C>T NP_001257377.1:p.Ala85=
XM_006721516.2:c.483C>T XP_006721579.2:p.Ala161=
XM_011523829.1:c.483C>T XP_011522131.1:p.Ala161=
XM_011523830.1:c.483C>T XP_011522132.1:p.Ala161=
XR_934021.1:n.590C>T
XR_934022.1:n.590C>T
XR_934023.1:n.590C>T
XM_006721516.3:c.483C>T XP_006721579.2:p.Ala161=
XM_011523829.2:c.483C>T XP_011522131.1:p.Ala161=
XM_011523830.2:c.483C>T XP_011522132.1:p.Ala161=
XM_024450741.1:c.483C>T XP_024306509.1:p.Ala161=
XR_934021.2:n.542C>T
XR_934022.2:n.542C>T
XR_934023.2:n.542C>T
NM_000018.4:c.483C>T MANE Select NP_000009.1:p.Ala161=
NM_001033859.3:c.417C>T NP_001029031.1:p.Ala139=
NM_001270447.2:c.552C>T NP_001257376.1:p.Ala184=
NM_001270448.2:c.255C>T NP_001257377.1:p.Ala85=
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