Canonical Allele Identifier: CA397723220

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.587C>G MANE Select	ENSP00000349297.5:p.Ala196Gly
ENST00000322910.9:c.*542C>G	ENSP00000325395.5:n.*542C>G
ENST00000350303.9:c.521C>G	ENSP00000344152.5:p.Ala174Gly
ENST00000356839.9:c.587C>G	ENSP00000349297.5:p.Ala196Gly
ENST00000543245.6:c.656C>G	ENSP00000438689.2:p.Ala219Gly
ENST00000577191.5:n.664C>G
ENST00000577433.5:n.795C>G
ENST00000577857.5:n.403C>G
ENST00000579286.5:n.768C>G
ENST00000579886.2:c.425C>G	ENSP00000463246.1:p.Ala142Gly
ENST00000580365.1:n.318C>G
ENST00000581378.5:c.305C>G
ENST00000581562.5:n.525-305C>G
ENST00000583312.5:c.587C>G	ENSP00000467920.1:p.Ala196Gly
ENST00000583760.1:n.369C>G
NM_000018.3:c.587C>G	NP_000009.1:p.Ala196Gly
NM_001033859.2:c.521C>G	NP_001029031.1:p.Ala174Gly
NM_001270447.1:c.656C>G	NP_001257376.1:p.Ala219Gly
NM_001270448.1:c.359C>G	NP_001257377.1:p.Ala120Gly
XM_006721516.2:c.587C>G	XP_006721579.2:p.Ala196Gly
XM_011523829.1:c.587C>G	XP_011522131.1:p.Ala196Gly
XM_011523830.1:c.587C>G	XP_011522132.1:p.Ala196Gly
XR_934021.1:n.694C>G
XR_934022.1:n.694C>G
XR_934023.1:n.694C>G
XM_006721516.3:c.587C>G	XP_006721579.2:p.Ala196Gly
XM_011523829.2:c.587C>G	XP_011522131.1:p.Ala196Gly
XM_011523830.2:c.587C>G	XP_011522132.1:p.Ala196Gly
XM_024450741.1:c.587C>G	XP_024306509.1:p.Ala196Gly
XR_934021.2:n.646C>G
XR_934022.2:n.646C>G
XR_934023.2:n.646C>G
NM_000018.4:c.587C>G MANE Select	NP_000009.1:p.Ala196Gly
NM_001033859.3:c.521C>G	NP_001029031.1:p.Ala174Gly
NM_001270447.2:c.656C>G	NP_001257376.1:p.Ala219Gly
NM_001270448.2:c.359C>G	NP_001257377.1:p.Ala120Gly