Canonical Allele Identifier: CA497693760
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124928C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221609C>T , CM000679.2:g.7221609C>T GRCh38
NC_000017.10:g.7124928C>T , CM000679.1:g.7124928C>T GRCh37
NC_000017.9:g.7065652C>T NCBI36
NG_007975.1:g.6776C>T
NG_008391.2:g.3442G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.549C>T MANE Select ENSP00000349297.5:p.Ser183=
ENST00000322910.9:c.*504C>T ENSP00000325395.5:n.*504C>T
ENST00000350303.9:c.483C>T ENSP00000344152.5:p.Ser161=
ENST00000356839.9:c.549C>T ENSP00000349297.5:p.Ser183=
ENST00000543245.6:c.618C>T ENSP00000438689.2:p.Ser206=
ENST00000577191.5:n.626C>T
ENST00000577433.5:n.757C>T
ENST00000577857.5:n.365C>T
ENST00000579286.5:n.730C>T
ENST00000579886.2:c.387C>T ENSP00000463246.1:p.Ser129=
ENST00000580365.1:n.280C>T
ENST00000581378.5:c.267C>T
ENST00000581562.5:n.525-343C>T
ENST00000582166.1:n.530C>T
ENST00000583312.5:c.549C>T ENSP00000467920.1:p.Ser183=
ENST00000583760.1:n.331C>T
NM_000018.3:c.549C>T NP_000009.1:p.Ser183=
NM_001033859.2:c.483C>T NP_001029031.1:p.Ser161=
NM_001270447.1:c.618C>T NP_001257376.1:p.Ser206=
NM_001270448.1:c.321C>T NP_001257377.1:p.Ser107=
XM_006721516.2:c.549C>T XP_006721579.2:p.Ser183=
XM_011523829.1:c.549C>T XP_011522131.1:p.Ser183=
XM_011523830.1:c.549C>T XP_011522132.1:p.Ser183=
XR_934021.1:n.656C>T
XR_934022.1:n.656C>T
XR_934023.1:n.656C>T
XM_006721516.3:c.549C>T XP_006721579.2:p.Ser183=
XM_011523829.2:c.549C>T XP_011522131.1:p.Ser183=
XM_011523830.2:c.549C>T XP_011522132.1:p.Ser183=
XM_024450741.1:c.549C>T XP_024306509.1:p.Ser183=
XR_934021.2:n.608C>T
XR_934022.2:n.608C>T
XR_934023.2:n.608C>T
NM_000018.4:c.549C>T MANE Select NP_000009.1:p.Ser183=
NM_001033859.3:c.483C>T NP_001029031.1:p.Ser161=
NM_001270447.2:c.618C>T NP_001257376.1:p.Ser206=
NM_001270448.2:c.321C>T NP_001257377.1:p.Ser107=
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