Canonical Allele Identifier: CA397723371

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125289T>G (hg19) ; chr17:g.7221970T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221970T>G , CM000679.2:g.7221970T>G	GRCh38
NC_000017.10:g.7125289T>G , CM000679.1:g.7125289T>G	GRCh37
NC_000017.9:g.7066013T>G	NCBI36
NG_007975.1:g.7137T>G
NG_008391.2:g.3081A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.641T>G MANE Select	ENSP00000349297.5:p.Phe214Cys
ENST00000322910.9:c.*596T>G	ENSP00000325395.5:n.*596T>G
ENST00000350303.9:c.575T>G	ENSP00000344152.5:p.Phe192Cys
ENST00000356839.9:c.641T>G	ENSP00000349297.5:p.Phe214Cys
ENST00000543245.6:c.710T>G	ENSP00000438689.2:p.Phe237Cys
ENST00000577191.5:n.718T>G
ENST00000577857.5:n.457T>G
ENST00000579286.5:n.822T>G
ENST00000580365.1:n.372T>G
ENST00000581378.5:c.359T>G
ENST00000581562.5:n.543T>G
ENST00000582379.1:n.25T>G
ENST00000583312.5:c.656T>G	ENSP00000467920.1:p.Phe219Cys
ENST00000583760.1:n.423T>G
NM_000018.3:c.641T>G	NP_000009.1:p.Phe214Cys
NM_001033859.2:c.575T>G	NP_001029031.1:p.Phe192Cys
NM_001270447.1:c.710T>G	NP_001257376.1:p.Phe237Cys
NM_001270448.1:c.413T>G	NP_001257377.1:p.Phe138Cys
XM_006721516.2:c.641T>G	XP_006721579.2:p.Phe214Cys
XM_011523829.1:c.641T>G	XP_011522131.1:p.Phe214Cys
XM_011523830.1:c.641T>G	XP_011522132.1:p.Phe214Cys
XR_934021.1:n.748T>G
XR_934022.1:n.748T>G
XR_934023.1:n.748T>G
XM_006721516.3:c.641T>G	XP_006721579.2:p.Phe214Cys
XM_011523829.2:c.641T>G	XP_011522131.1:p.Phe214Cys
XM_011523830.2:c.641T>G	XP_011522132.1:p.Phe214Cys
XM_024450741.1:c.641T>G	XP_024306509.1:p.Phe214Cys
XR_934021.2:n.700T>G
XR_934022.2:n.700T>G
XR_934023.2:n.700T>G
NM_000018.4:c.641T>G MANE Select	NP_000009.1:p.Phe214Cys
NM_001033859.3:c.575T>G	NP_001029031.1:p.Phe192Cys
NM_001270447.2:c.710T>G	NP_001257376.1:p.Phe237Cys
NM_001270448.2:c.413T>G	NP_001257377.1:p.Phe138Cys