Canonical Allele Identifier: CA397723268
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124987C>A (hg19) chr17:g.7221668C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221668C>A , CM000679.2:g.7221668C>A GRCh38
NC_000017.10:g.7124987C>A , CM000679.1:g.7124987C>A GRCh37
NC_000017.9:g.7065711C>A NCBI36
NG_007975.1:g.6835C>A
NG_008391.2:g.3383G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.608C>A MANE Select ENSP00000349297.5:p.Pro203His
ENST00000322910.9:c.*563C>A ENSP00000325395.5:n.*563C>A
ENST00000350303.9:c.542C>A ENSP00000344152.5:p.Pro181His
ENST00000356839.9:c.608C>A ENSP00000349297.5:p.Pro203His
ENST00000543245.6:c.677C>A ENSP00000438689.2:p.Pro226His
ENST00000577191.5:n.685C>A
ENST00000577857.5:n.424C>A
ENST00000579286.5:n.789C>A
ENST00000579886.2:c.446C>A ENSP00000463246.1:p.Pro149His
ENST00000580365.1:n.339C>A
ENST00000581378.5:c.326C>A
ENST00000581562.5:n.525-284C>A
ENST00000583312.5:c.608C>A ENSP00000467920.1:p.Pro203His
ENST00000583760.1:n.390C>A
NM_000018.3:c.608C>A NP_000009.1:p.Pro203His
NM_001033859.2:c.542C>A NP_001029031.1:p.Pro181His
NM_001270447.1:c.677C>A NP_001257376.1:p.Pro226His
NM_001270448.1:c.380C>A NP_001257377.1:p.Pro127His
XM_006721516.2:c.608C>A XP_006721579.2:p.Pro203His
XM_011523829.1:c.608C>A XP_011522131.1:p.Pro203His
XM_011523830.1:c.608C>A XP_011522132.1:p.Pro203His
XR_934021.1:n.715C>A
XR_934022.1:n.715C>A
XR_934023.1:n.715C>A
XM_006721516.3:c.608C>A XP_006721579.2:p.Pro203His
XM_011523829.2:c.608C>A XP_011522131.1:p.Pro203His
XM_011523830.2:c.608C>A XP_011522132.1:p.Pro203His
XM_024450741.1:c.608C>A XP_024306509.1:p.Pro203His
XR_934021.2:n.667C>A
XR_934022.2:n.667C>A
XR_934023.2:n.667C>A
NM_000018.4:c.608C>A MANE Select NP_000009.1:p.Pro203His
NM_001033859.3:c.542C>A NP_001029031.1:p.Pro181His
NM_001270447.2:c.677C>A NP_001257376.1:p.Pro226His
NM_001270448.2:c.380C>A NP_001257377.1:p.Pro127His
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