Canonical Allele Identifier: CA397723126
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124922T>G (hg19) chr17:g.7221603T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221603T>G , CM000679.2:g.7221603T>G GRCh38
NC_000017.10:g.7124922T>G , CM000679.1:g.7124922T>G GRCh37
NC_000017.9:g.7065646T>G NCBI36
NG_007975.1:g.6770T>G
NG_008391.2:g.3448A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.543T>G MANE Select ENSP00000349297.5:p.His181Gln
ENST00000322910.9:c.*498T>G ENSP00000325395.5:n.*498T>G
ENST00000350303.9:c.477T>G ENSP00000344152.5:p.His159Gln
ENST00000356839.9:c.543T>G ENSP00000349297.5:p.His181Gln
ENST00000543245.6:c.612T>G ENSP00000438689.2:p.His204Gln
ENST00000577191.5:n.620T>G
ENST00000577433.5:n.751T>G
ENST00000577857.5:n.359T>G
ENST00000579286.5:n.724T>G
ENST00000579886.2:c.381T>G ENSP00000463246.1:p.His127Gln
ENST00000580365.1:n.274T>G
ENST00000581378.5:c.261T>G
ENST00000581562.5:n.525-349T>G
ENST00000582166.1:n.524T>G
ENST00000583312.5:c.543T>G ENSP00000467920.1:p.His181Gln
ENST00000583760.1:n.325T>G
NM_000018.3:c.543T>G NP_000009.1:p.His181Gln
NM_001033859.2:c.477T>G NP_001029031.1:p.His159Gln
NM_001270447.1:c.612T>G NP_001257376.1:p.His204Gln
NM_001270448.1:c.315T>G NP_001257377.1:p.His105Gln
XM_006721516.2:c.543T>G XP_006721579.2:p.His181Gln
XM_011523829.1:c.543T>G XP_011522131.1:p.His181Gln
XM_011523830.1:c.543T>G XP_011522132.1:p.His181Gln
XR_934021.1:n.650T>G
XR_934022.1:n.650T>G
XR_934023.1:n.650T>G
XM_006721516.3:c.543T>G XP_006721579.2:p.His181Gln
XM_011523829.2:c.543T>G XP_011522131.1:p.His181Gln
XM_011523830.2:c.543T>G XP_011522132.1:p.His181Gln
XM_024450741.1:c.543T>G XP_024306509.1:p.His181Gln
XR_934021.2:n.602T>G
XR_934022.2:n.602T>G
XR_934023.2:n.602T>G
NM_000018.4:c.543T>G MANE Select NP_000009.1:p.His181Gln
NM_001033859.3:c.477T>G NP_001029031.1:p.His159Gln
NM_001270447.2:c.612T>G NP_001257376.1:p.His204Gln
NM_001270448.2:c.315T>G NP_001257377.1:p.His105Gln
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