Canonical Allele Identifier: CA497694584

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1121780
• ClinVar RCV Id: RCV001452194
• dbSNP Id: rs886053375
• gnomAD v4: 17-7225061-G-C
• MyVariant Identifiers: chr17:g.7128380G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225061G>C , CM000679.2:g.7225061G>C	GRCh38
NC_000017.10:g.7128380G>C , CM000679.1:g.7128380G>C	GRCh37
NC_000017.9:g.7069104G>C	NCBI36
NG_007975.1:g.10228G>C
NG_033038.1:g.14484C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1932G>C MANE Select	ENSP00000349297.5:p.Arg644=
ENST00000322910.9:c.*1887G>C	ENSP00000325395.5:n.*1887G>C
ENST00000350303.9:c.1866G>C	ENSP00000344152.5:p.Arg622=
ENST00000356839.9:c.1932G>C	ENSP00000349297.5:p.Arg644=
ENST00000542255.6:c.811G>C
ENST00000543245.6:c.2001G>C	ENSP00000438689.2:p.Arg667=
ENST00000578033.1:n.357G>C
ENST00000578319.5:n.513G>C
ENST00000578711.1:n.1557G>C
ENST00000578809.5:n.504G>C
ENST00000579425.5:n.1048G>C
ENST00000583848.5:c.298G>C	ENSP00000466487.1:n.298G>C
ENST00000583850.5:n.703G>C
ENST00000583858.5:c.863G>C
NM_000018.3:c.1932G>C	NP_000009.1:p.Arg644=
NM_001033859.2:c.1866G>C	NP_001029031.1:p.Arg622=
NM_001270447.1:c.2001G>C	NP_001257376.1:p.Arg667=
NM_001270448.1:c.1704G>C	NP_001257377.1:p.Arg568=
XM_006721516.2:c.1953G>C	XP_006721579.2:p.Arg651=
XM_011523829.1:c.1851G>C	XP_011522131.1:p.Arg617=
XM_011523830.1:c.1830G>C	XP_011522132.1:p.Arg610=
XR_934021.1:n.2035G>C
XR_934022.1:n.1941G>C
XR_934023.1:n.1962G>C
XM_006721516.3:c.1953G>C	XP_006721579.2:p.Arg651=
XM_011523829.2:c.1851G>C	XP_011522131.1:p.Arg617=
XM_011523830.2:c.1830G>C	XP_011522132.1:p.Arg610=
XM_024450741.1:c.1920G>C	XP_024306509.1:p.Arg640=
XR_934021.2:n.1987G>C
XR_934022.2:n.1893G>C
XR_934023.2:n.1914G>C
NM_000018.4:c.1932G>C MANE Select	NP_000009.1:p.Arg644=
NM_001033859.3:c.1866G>C	NP_001029031.1:p.Arg622=
NM_001270447.2:c.2001G>C	NP_001257376.1:p.Arg667=
NM_001270448.2:c.1704G>C	NP_001257377.1:p.Arg568=