Canonical Allele Identifier: CA497693981

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125287T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221968T>A , CM000679.2:g.7221968T>A	GRCh38
NC_000017.10:g.7125287T>A , CM000679.1:g.7125287T>A	GRCh37
NC_000017.9:g.7066011T>A	NCBI36
NG_007975.1:g.7135T>A
NG_008391.2:g.3083A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.639T>A MANE Select	ENSP00000349297.5:p.Ala213=
ENST00000322910.9:c.*594T>A	ENSP00000325395.5:n.*594T>A
ENST00000350303.9:c.573T>A	ENSP00000344152.5:p.Ala191=
ENST00000356839.9:c.639T>A	ENSP00000349297.5:p.Ala213=
ENST00000543245.6:c.708T>A	ENSP00000438689.2:p.Ala236=
ENST00000577191.5:n.716T>A
ENST00000577857.5:n.455T>A
ENST00000579286.5:n.820T>A
ENST00000580365.1:n.370T>A
ENST00000581378.5:c.357T>A
ENST00000581562.5:n.541T>A
ENST00000582379.1:n.23T>A
ENST00000583312.5:c.654T>A	ENSP00000467920.1:p.Ala218=
ENST00000583760.1:n.421T>A
NM_000018.3:c.639T>A	NP_000009.1:p.Ala213=
NM_001033859.2:c.573T>A	NP_001029031.1:p.Ala191=
NM_001270447.1:c.708T>A	NP_001257376.1:p.Ala236=
NM_001270448.1:c.411T>A	NP_001257377.1:p.Ala137=
XM_006721516.2:c.639T>A	XP_006721579.2:p.Ala213=
XM_011523829.1:c.639T>A	XP_011522131.1:p.Ala213=
XM_011523830.1:c.639T>A	XP_011522132.1:p.Ala213=
XR_934021.1:n.746T>A
XR_934022.1:n.746T>A
XR_934023.1:n.746T>A
XM_006721516.3:c.639T>A	XP_006721579.2:p.Ala213=
XM_011523829.2:c.639T>A	XP_011522131.1:p.Ala213=
XM_011523830.2:c.639T>A	XP_011522132.1:p.Ala213=
XM_024450741.1:c.639T>A	XP_024306509.1:p.Ala213=
XR_934021.2:n.698T>A
XR_934022.2:n.698T>A
XR_934023.2:n.698T>A
NM_000018.4:c.639T>A MANE Select	NP_000009.1:p.Ala213=
NM_001033859.3:c.573T>A	NP_001029031.1:p.Ala191=
NM_001270447.2:c.708T>A	NP_001257376.1:p.Ala236=
NM_001270448.2:c.411T>A	NP_001257377.1:p.Ala137=