Canonical Allele Identifier: CA397723221

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124966C>A (hg19) ; chr17:g.7221647C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221647C>A , CM000679.2:g.7221647C>A	GRCh38
NC_000017.10:g.7124966C>A , CM000679.1:g.7124966C>A	GRCh37
NC_000017.9:g.7065690C>A	NCBI36
NG_007975.1:g.6814C>A
NG_008391.2:g.3404G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.587C>A MANE Select	ENSP00000349297.5:p.Ala196Asp
ENST00000322910.9:c.*542C>A	ENSP00000325395.5:n.*542C>A
ENST00000350303.9:c.521C>A	ENSP00000344152.5:p.Ala174Asp
ENST00000356839.9:c.587C>A	ENSP00000349297.5:p.Ala196Asp
ENST00000543245.6:c.656C>A	ENSP00000438689.2:p.Ala219Asp
ENST00000577191.5:n.664C>A
ENST00000577433.5:n.795C>A
ENST00000577857.5:n.403C>A
ENST00000579286.5:n.768C>A
ENST00000579886.2:c.425C>A	ENSP00000463246.1:p.Ala142Asp
ENST00000580365.1:n.318C>A
ENST00000581378.5:c.305C>A
ENST00000581562.5:n.525-305C>A
ENST00000583312.5:c.587C>A	ENSP00000467920.1:p.Ala196Asp
ENST00000583760.1:n.369C>A
NM_000018.3:c.587C>A	NP_000009.1:p.Ala196Asp
NM_001033859.2:c.521C>A	NP_001029031.1:p.Ala174Asp
NM_001270447.1:c.656C>A	NP_001257376.1:p.Ala219Asp
NM_001270448.1:c.359C>A	NP_001257377.1:p.Ala120Asp
XM_006721516.2:c.587C>A	XP_006721579.2:p.Ala196Asp
XM_011523829.1:c.587C>A	XP_011522131.1:p.Ala196Asp
XM_011523830.1:c.587C>A	XP_011522132.1:p.Ala196Asp
XR_934021.1:n.694C>A
XR_934022.1:n.694C>A
XR_934023.1:n.694C>A
XM_006721516.3:c.587C>A	XP_006721579.2:p.Ala196Asp
XM_011523829.2:c.587C>A	XP_011522131.1:p.Ala196Asp
XM_011523830.2:c.587C>A	XP_011522132.1:p.Ala196Asp
XM_024450741.1:c.587C>A	XP_024306509.1:p.Ala196Asp
XR_934021.2:n.646C>A
XR_934022.2:n.646C>A
XR_934023.2:n.646C>A
NM_000018.4:c.587C>A MANE Select	NP_000009.1:p.Ala196Asp
NM_001033859.3:c.521C>A	NP_001029031.1:p.Ala174Asp
NM_001270447.2:c.656C>A	NP_001257376.1:p.Ala219Asp
NM_001270448.2:c.359C>A	NP_001257377.1:p.Ala120Asp