Canonical Allele Identifier: CA397725970

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1499081
• ClinVar RCV Id: RCV001999465
• dbSNP Id: rs398123086
• gnomAD v4: 17-7224882-G-C
• MyVariant Identifiers: chr17:g.7128201G>C (hg19) ; chr17:g.7224882G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224882G>C , CM000679.2:g.7224882G>C	GRCh38
NC_000017.10:g.7128201G>C , CM000679.1:g.7128201G>C	GRCh37
NC_000017.9:g.7068925G>C	NCBI36
NG_007975.1:g.10049G>C
NG_008391.2:g.169C>G
NG_033038.1:g.14663C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1825G>C MANE Select	ENSP00000349297.5:p.Glu609Gln
ENST00000322910.9:c.*1780G>C	ENSP00000325395.5:n.*1780G>C
ENST00000350303.9:c.1759G>C	ENSP00000344152.5:p.Glu587Gln
ENST00000356839.9:c.1825G>C	ENSP00000349297.5:p.Glu609Gln
ENST00000542255.6:c.704G>C
ENST00000543245.6:c.1894G>C	ENSP00000438689.2:p.Glu632Gln
ENST00000578033.1:n.250G>C
ENST00000578319.5:n.406G>C
ENST00000578711.1:n.1378G>C
ENST00000578809.5:n.397G>C
ENST00000579425.5:n.941G>C
ENST00000579546.1:c.560G>C
ENST00000583848.5:c.191G>C	ENSP00000466487.1:n.191G>C
ENST00000583850.5:n.596G>C
ENST00000583858.5:c.756G>C
NM_000018.3:c.1825G>C	NP_000009.1:p.Glu609Gln
NM_001033859.2:c.1759G>C	NP_001029031.1:p.Glu587Gln
NM_001270447.1:c.1894G>C	NP_001257376.1:p.Glu632Gln
NM_001270448.1:c.1597G>C	NP_001257377.1:p.Glu533Gln
XM_006721516.2:c.1846G>C	XP_006721579.2:p.Glu616Gln
XM_011523829.1:c.1744G>C	XP_011522131.1:p.Glu582Gln
XM_011523830.1:c.1723G>C	XP_011522132.1:p.Glu575Gln
XR_934021.1:n.1928G>C
XR_934022.1:n.1834G>C
XR_934023.1:n.1855G>C
XM_006721516.3:c.1846G>C	XP_006721579.2:p.Glu616Gln
XM_011523829.2:c.1744G>C	XP_011522131.1:p.Glu582Gln
XM_011523830.2:c.1723G>C	XP_011522132.1:p.Glu575Gln
XM_024450741.1:c.1813G>C	XP_024306509.1:p.Glu605Gln
XR_934021.2:n.1880G>C
XR_934022.2:n.1786G>C
XR_934023.2:n.1807G>C
NM_000018.4:c.1825G>C MANE Select	NP_000009.1:p.Glu609Gln
NM_001033859.3:c.1759G>C	NP_001029031.1:p.Glu587Gln
NM_001270447.2:c.1894G>C	NP_001257376.1:p.Glu632Gln
NM_001270448.2:c.1597G>C	NP_001257377.1:p.Glu533Gln