Canonical Allele Identifier: CA397723023

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932862
• ClinVar RCV Id: RCV001200822
• dbSNP Id: rs2071226145
• MyVariant Identifiers: chr17:g.7124872G>A (hg19) ; chr17:g.7221553G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221553G>A , CM000679.2:g.7221553G>A	GRCh38
NC_000017.10:g.7124872G>A , CM000679.1:g.7124872G>A	GRCh37
NC_000017.9:g.7065596G>A	NCBI36
NG_007975.1:g.6720G>A
NG_008391.2:g.3498C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.493G>A MANE Select	ENSP00000349297.5:p.Glu165Lys
ENST00000322910.9:c.*448G>A	ENSP00000325395.5:n.*448G>A
ENST00000350303.9:c.427G>A	ENSP00000344152.5:p.Glu143Lys
ENST00000356839.9:c.493G>A	ENSP00000349297.5:p.Glu165Lys
ENST00000543245.6:c.562G>A	ENSP00000438689.2:p.Glu188Lys
ENST00000577191.5:n.570G>A
ENST00000577433.5:n.701G>A
ENST00000577857.5:n.309G>A
ENST00000579286.5:n.674G>A
ENST00000579886.2:c.331G>A	ENSP00000463246.1:p.Glu111Lys
ENST00000580365.1:n.224G>A
ENST00000581378.5:c.211G>A
ENST00000581562.5:n.525-399G>A
ENST00000582166.1:n.474G>A
ENST00000583312.5:c.493G>A	ENSP00000467920.1:p.Glu165Lys
ENST00000583760.1:n.275G>A
NM_000018.3:c.493G>A	NP_000009.1:p.Glu165Lys
NM_001033859.2:c.427G>A	NP_001029031.1:p.Glu143Lys
NM_001270447.1:c.562G>A	NP_001257376.1:p.Glu188Lys
NM_001270448.1:c.265G>A	NP_001257377.1:p.Glu89Lys
XM_006721516.2:c.493G>A	XP_006721579.2:p.Glu165Lys
XM_011523829.1:c.493G>A	XP_011522131.1:p.Glu165Lys
XM_011523830.1:c.493G>A	XP_011522132.1:p.Glu165Lys
XR_934021.1:n.600G>A
XR_934022.1:n.600G>A
XR_934023.1:n.600G>A
XM_006721516.3:c.493G>A	XP_006721579.2:p.Glu165Lys
XM_011523829.2:c.493G>A	XP_011522131.1:p.Glu165Lys
XM_011523830.2:c.493G>A	XP_011522132.1:p.Glu165Lys
XM_024450741.1:c.493G>A	XP_024306509.1:p.Glu165Lys
XR_934021.2:n.552G>A
XR_934022.2:n.552G>A
XR_934023.2:n.552G>A
NM_000018.4:c.493G>A MANE Select	NP_000009.1:p.Glu165Lys
NM_001033859.3:c.427G>A	NP_001029031.1:p.Glu143Lys
NM_001270447.2:c.562G>A	NP_001257376.1:p.Glu188Lys
NM_001270448.2:c.265G>A	NP_001257377.1:p.Glu89Lys