Canonical Allele Identifier: CA397723045

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932864
• ClinVar RCV Id: RCV001200824
• dbSNP Id: rs2071227236
• MyVariant Identifiers: chr17:g.7124882G>A (hg19) ; chr17:g.7221563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221563G>A , CM000679.2:g.7221563G>A	GRCh38
NC_000017.10:g.7124882G>A , CM000679.1:g.7124882G>A	GRCh37
NC_000017.9:g.7065606G>A	NCBI36
NG_007975.1:g.6730G>A
NG_008391.2:g.3488C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.503G>A MANE Select	ENSP00000349297.5:p.Gly168Asp
ENST00000322910.9:c.*458G>A	ENSP00000325395.5:n.*458G>A
ENST00000350303.9:c.437G>A	ENSP00000344152.5:p.Gly146Asp
ENST00000356839.9:c.503G>A	ENSP00000349297.5:p.Gly168Asp
ENST00000543245.6:c.572G>A	ENSP00000438689.2:p.Gly191Asp
ENST00000577191.5:n.580G>A
ENST00000577433.5:n.711G>A
ENST00000577857.5:n.319G>A
ENST00000579286.5:n.684G>A
ENST00000579886.2:c.341G>A	ENSP00000463246.1:p.Gly114Asp
ENST00000580365.1:n.234G>A
ENST00000581378.5:c.221G>A
ENST00000581562.5:n.525-389G>A
ENST00000582166.1:n.484G>A
ENST00000583312.5:c.503G>A	ENSP00000467920.1:p.Gly168Asp
ENST00000583760.1:n.285G>A
NM_000018.3:c.503G>A	NP_000009.1:p.Gly168Asp
NM_001033859.2:c.437G>A	NP_001029031.1:p.Gly146Asp
NM_001270447.1:c.572G>A	NP_001257376.1:p.Gly191Asp
NM_001270448.1:c.275G>A	NP_001257377.1:p.Gly92Asp
XM_006721516.2:c.503G>A	XP_006721579.2:p.Gly168Asp
XM_011523829.1:c.503G>A	XP_011522131.1:p.Gly168Asp
XM_011523830.1:c.503G>A	XP_011522132.1:p.Gly168Asp
XR_934021.1:n.610G>A
XR_934022.1:n.610G>A
XR_934023.1:n.610G>A
XM_006721516.3:c.503G>A	XP_006721579.2:p.Gly168Asp
XM_011523829.2:c.503G>A	XP_011522131.1:p.Gly168Asp
XM_011523830.2:c.503G>A	XP_011522132.1:p.Gly168Asp
XM_024450741.1:c.503G>A	XP_024306509.1:p.Gly168Asp
XR_934021.2:n.562G>A
XR_934022.2:n.562G>A
XR_934023.2:n.562G>A
NM_000018.4:c.503G>A MANE Select	NP_000009.1:p.Gly168Asp
NM_001033859.3:c.437G>A	NP_001029031.1:p.Gly146Asp
NM_001270447.2:c.572G>A	NP_001257376.1:p.Gly191Asp
NM_001270448.2:c.275G>A	NP_001257377.1:p.Gly92Asp