Canonical Allele Identifier: CA397726046

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224988-C-A
• MyVariant Identifiers: chr17:g.7128307C>A (hg19) ; chr17:g.7224988C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224988C>A , CM000679.2:g.7224988C>A	GRCh38
NC_000017.10:g.7128307C>A , CM000679.1:g.7128307C>A	GRCh37
NC_000017.9:g.7069031C>A	NCBI36
NG_007975.1:g.10155C>A
NG_008391.2:g.63G>T
NG_033038.1:g.14557G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1859C>A MANE Select	ENSP00000349297.5:p.Ala620Asp
ENST00000322910.9:c.*1814C>A	ENSP00000325395.5:n.*1814C>A
ENST00000350303.9:c.1793C>A	ENSP00000344152.5:p.Ala598Asp
ENST00000356839.9:c.1859C>A	ENSP00000349297.5:p.Ala620Asp
ENST00000542255.6:c.738C>A
ENST00000543245.6:c.1928C>A	ENSP00000438689.2:p.Ala643Asp
ENST00000578033.1:n.284C>A
ENST00000578319.5:n.440C>A
ENST00000578711.1:n.1484C>A
ENST00000578809.5:n.431C>A
ENST00000579425.5:n.975C>A
ENST00000583848.5:c.225C>A	ENSP00000466487.1:n.225C>A
ENST00000583850.5:n.630C>A
ENST00000583858.5:c.790C>A
NM_000018.3:c.1859C>A	NP_000009.1:p.Ala620Asp
NM_001033859.2:c.1793C>A	NP_001029031.1:p.Ala598Asp
NM_001270447.1:c.1928C>A	NP_001257376.1:p.Ala643Asp
NM_001270448.1:c.1631C>A	NP_001257377.1:p.Ala544Asp
XM_006721516.2:c.1880C>A	XP_006721579.2:p.Ala627Asp
XM_011523829.1:c.1778C>A	XP_011522131.1:p.Ala593Asp
XM_011523830.1:c.1757C>A	XP_011522132.1:p.Ala586Asp
XR_934021.1:n.1962C>A
XR_934022.1:n.1868C>A
XR_934023.1:n.1889C>A
XM_006721516.3:c.1880C>A	XP_006721579.2:p.Ala627Asp
XM_011523829.2:c.1778C>A	XP_011522131.1:p.Ala593Asp
XM_011523830.2:c.1757C>A	XP_011522132.1:p.Ala586Asp
XM_024450741.1:c.1847C>A	XP_024306509.1:p.Ala616Asp
XR_934021.2:n.1914C>A
XR_934022.2:n.1820C>A
XR_934023.2:n.1841C>A
NM_000018.4:c.1859C>A MANE Select	NP_000009.1:p.Ala620Asp
NM_001033859.3:c.1793C>A	NP_001029031.1:p.Ala598Asp
NM_001270447.2:c.1928C>A	NP_001257376.1:p.Ala643Asp
NM_001270448.2:c.1631C>A	NP_001257377.1:p.Ala544Asp