Canonical Allele Identifier: CA497693753
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124919C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221600C>G , CM000679.2:g.7221600C>G GRCh38
NC_000017.10:g.7124919C>G , CM000679.1:g.7124919C>G GRCh37
NC_000017.9:g.7065643C>G NCBI36
NG_007975.1:g.6767C>G
NG_008391.2:g.3451G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.540C>G MANE Select ENSP00000349297.5:p.Ala180=
ENST00000322910.9:c.*495C>G ENSP00000325395.5:n.*495C>G
ENST00000350303.9:c.474C>G ENSP00000344152.5:p.Ala158=
ENST00000356839.9:c.540C>G ENSP00000349297.5:p.Ala180=
ENST00000543245.6:c.609C>G ENSP00000438689.2:p.Ala203=
ENST00000577191.5:n.617C>G
ENST00000577433.5:n.748C>G
ENST00000577857.5:n.356C>G
ENST00000579286.5:n.721C>G
ENST00000579886.2:c.378C>G ENSP00000463246.1:p.Ala126=
ENST00000580365.1:n.271C>G
ENST00000581378.5:c.258C>G
ENST00000581562.5:n.525-352C>G
ENST00000582166.1:n.521C>G
ENST00000583312.5:c.540C>G ENSP00000467920.1:p.Ala180=
ENST00000583760.1:n.322C>G
NM_000018.3:c.540C>G NP_000009.1:p.Ala180=
NM_001033859.2:c.474C>G NP_001029031.1:p.Ala158=
NM_001270447.1:c.609C>G NP_001257376.1:p.Ala203=
NM_001270448.1:c.312C>G NP_001257377.1:p.Ala104=
XM_006721516.2:c.540C>G XP_006721579.2:p.Ala180=
XM_011523829.1:c.540C>G XP_011522131.1:p.Ala180=
XM_011523830.1:c.540C>G XP_011522132.1:p.Ala180=
XR_934021.1:n.647C>G
XR_934022.1:n.647C>G
XR_934023.1:n.647C>G
XM_006721516.3:c.540C>G XP_006721579.2:p.Ala180=
XM_011523829.2:c.540C>G XP_011522131.1:p.Ala180=
XM_011523830.2:c.540C>G XP_011522132.1:p.Ala180=
XM_024450741.1:c.540C>G XP_024306509.1:p.Ala180=
XR_934021.2:n.599C>G
XR_934022.2:n.599C>G
XR_934023.2:n.599C>G
NM_000018.4:c.540C>G MANE Select NP_000009.1:p.Ala180=
NM_001033859.3:c.474C>G NP_001029031.1:p.Ala158=
NM_001270447.2:c.609C>G NP_001257376.1:p.Ala203=
NM_001270448.2:c.312C>G NP_001257377.1:p.Ala104=
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