Canonical Allele Identifier: CA397723369

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125288T>A (hg19) ; chr17:g.7221969T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221969T>A , CM000679.2:g.7221969T>A	GRCh38
NC_000017.10:g.7125288T>A , CM000679.1:g.7125288T>A	GRCh37
NC_000017.9:g.7066012T>A	NCBI36
NG_007975.1:g.7136T>A
NG_008391.2:g.3082A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.640T>A MANE Select	ENSP00000349297.5:p.Phe214Ile
ENST00000322910.9:c.*595T>A	ENSP00000325395.5:n.*595T>A
ENST00000350303.9:c.574T>A	ENSP00000344152.5:p.Phe192Ile
ENST00000356839.9:c.640T>A	ENSP00000349297.5:p.Phe214Ile
ENST00000543245.6:c.709T>A	ENSP00000438689.2:p.Phe237Ile
ENST00000577191.5:n.717T>A
ENST00000577857.5:n.456T>A
ENST00000579286.5:n.821T>A
ENST00000580365.1:n.371T>A
ENST00000581378.5:c.358T>A
ENST00000581562.5:n.542T>A
ENST00000582379.1:n.24T>A
ENST00000583312.5:c.655T>A	ENSP00000467920.1:p.Phe219Ile
ENST00000583760.1:n.422T>A
NM_000018.3:c.640T>A	NP_000009.1:p.Phe214Ile
NM_001033859.2:c.574T>A	NP_001029031.1:p.Phe192Ile
NM_001270447.1:c.709T>A	NP_001257376.1:p.Phe237Ile
NM_001270448.1:c.412T>A	NP_001257377.1:p.Phe138Ile
XM_006721516.2:c.640T>A	XP_006721579.2:p.Phe214Ile
XM_011523829.1:c.640T>A	XP_011522131.1:p.Phe214Ile
XM_011523830.1:c.640T>A	XP_011522132.1:p.Phe214Ile
XR_934021.1:n.747T>A
XR_934022.1:n.747T>A
XR_934023.1:n.747T>A
XM_006721516.3:c.640T>A	XP_006721579.2:p.Phe214Ile
XM_011523829.2:c.640T>A	XP_011522131.1:p.Phe214Ile
XM_011523830.2:c.640T>A	XP_011522132.1:p.Phe214Ile
XM_024450741.1:c.640T>A	XP_024306509.1:p.Phe214Ile
XR_934021.2:n.699T>A
XR_934022.2:n.699T>A
XR_934023.2:n.699T>A
NM_000018.4:c.640T>A MANE Select	NP_000009.1:p.Phe214Ile
NM_001033859.3:c.574T>A	NP_001029031.1:p.Phe192Ile
NM_001270447.2:c.709T>A	NP_001257376.1:p.Phe237Ile
NM_001270448.2:c.412T>A	NP_001257377.1:p.Phe138Ile