Canonical Allele Identifier: CA397725793

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932773
• ClinVar RCV Id: RCV001200714
• dbSNP Id: rs754123613
• MyVariant Identifiers: chr17:g.7128033G>C (hg19) ; chr17:g.7224714G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224714G>C , CM000679.2:g.7224714G>C	GRCh38
NC_000017.10:g.7128033G>C , CM000679.1:g.7128033G>C	GRCh37
NC_000017.9:g.7068757G>C	NCBI36
NG_007975.1:g.9881G>C
NG_008391.2:g.337C>G
NG_033038.1:g.14831C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1751G>C MANE Select	ENSP00000349297.5:p.Arg584Thr
ENST00000322910.9:c.*1706G>C	ENSP00000325395.5:n.*1706G>C
ENST00000350303.9:c.1685G>C	ENSP00000344152.5:p.Arg562Thr
ENST00000356839.9:c.1751G>C	ENSP00000349297.5:p.Arg584Thr
ENST00000542255.6:c.537-1G>C
ENST00000543245.6:c.1820G>C	ENSP00000438689.2:p.Arg607Thr
ENST00000578033.1:n.82G>C
ENST00000578319.5:n.332G>C
ENST00000578711.1:n.1210G>C
ENST00000578809.5:n.323G>C
ENST00000579425.5:n.867G>C
ENST00000579546.1:c.486G>C
ENST00000583074.5:n.300-1G>C
ENST00000583848.5:c.117G>C	ENSP00000466487.1:p.Glu39Asp
ENST00000583850.5:n.522G>C
ENST00000583858.5:c.682G>C
ENST00000585203.6:n.942G>C
NM_000018.3:c.1751G>C	NP_000009.1:p.Arg584Thr
NM_001033859.2:c.1685G>C	NP_001029031.1:p.Arg562Thr
NM_001270447.1:c.1820G>C	NP_001257376.1:p.Arg607Thr
NM_001270448.1:c.1523G>C	NP_001257377.1:p.Arg508Thr
XM_006721516.2:c.1679-1G>C	XP_006721579.2:n.1679-1G>C
XM_011523829.1:c.1577-1G>C	XP_011522131.1:n.1577-1G>C
XM_011523830.1:c.1649G>C	XP_011522132.1:p.Arg550Thr
XR_934021.1:n.1854G>C
XR_934022.1:n.1760G>C
XR_934023.1:n.1688-1G>C
XM_006721516.3:c.1679-1G>C	XP_006721579.2:n.1679-1G>C
XM_011523829.2:c.1577-1G>C	XP_011522131.1:n.1577-1G>C
XM_011523830.2:c.1649G>C	XP_011522132.1:p.Arg550Thr
XM_024450741.1:c.1739G>C	XP_024306509.1:p.Arg580Thr
XR_934021.2:n.1806G>C
XR_934022.2:n.1712G>C
XR_934023.2:n.1640-1G>C
NM_000018.4:c.1751G>C MANE Select	NP_000009.1:p.Arg584Thr
NM_001033859.3:c.1685G>C	NP_001029031.1:p.Arg562Thr
NM_001270447.2:c.1820G>C	NP_001257376.1:p.Arg607Thr
NM_001270448.2:c.1523G>C	NP_001257377.1:p.Arg508Thr