Canonical Allele Identifier: CA397726277

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1707710
• ClinVar RCV Id: RCV002286689
• MyVariant Identifiers: chr17:g.7128416A>C (hg19) ; chr17:g.7225097A>C (hg38)
• ERepo: CA397726277/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225097A>C , CM000679.2:g.7225097A>C	GRCh38
NC_000017.10:g.7128416A>C , CM000679.1:g.7128416A>C	GRCh37
NC_000017.9:g.7069140A>C	NCBI36
NG_007975.1:g.10264A>C
NG_033038.1:g.14448T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1968A>C MANE Select	ENSP00000349297.5:p.Ter656Cys
ENST00000322910.9:c.*1923A>C	ENSP00000325395.5:n.*1923A>C
ENST00000350303.9:c.1902A>C	ENSP00000344152.5:p.Ter634Cys
ENST00000356839.9:c.1968A>C	ENSP00000349297.5:p.Ter656Cys
ENST00000542255.6:c.847A>C
ENST00000543245.6:c.2037A>C	ENSP00000438689.2:p.Ter679Cys
ENST00000578033.1:n.393A>C
ENST00000578319.5:n.549A>C
ENST00000578711.1:n.1593A>C
ENST00000578809.5:n.540A>C
ENST00000579425.5:n.1084A>C
ENST00000583848.5:c.334A>C	ENSP00000466487.1:n.334A>C
ENST00000583850.5:n.739A>C
ENST00000583858.5:c.899A>C
NM_000018.3:c.1968A>C	NP_000009.1:p.Ter656Cys
NM_001033859.2:c.1902A>C	NP_001029031.1:p.Ter634Cys
NM_001270447.1:c.2037A>C	NP_001257376.1:p.Ter679Cys
NM_001270448.1:c.1740A>C	NP_001257377.1:p.Ter580Cys
XM_006721516.2:c.1989A>C	XP_006721579.2:p.Ter663Cys
XM_011523829.1:c.1887A>C	XP_011522131.1:p.Ter629Cys
XM_011523830.1:c.1866A>C	XP_011522132.1:p.Ter622Cys
XR_934021.1:n.2071A>C
XR_934022.1:n.1977A>C
XR_934023.1:n.1998A>C
XM_006721516.3:c.1989A>C	XP_006721579.2:p.Ter663Cys
XM_011523829.2:c.1887A>C	XP_011522131.1:p.Ter629Cys
XM_011523830.2:c.1866A>C	XP_011522132.1:p.Ter622Cys
XM_024450741.1:c.1956A>C	XP_024306509.1:p.Ter652Cys
XR_934021.2:n.2023A>C
XR_934022.2:n.1929A>C
XR_934023.2:n.1950A>C
NM_000018.4:c.1968A>C MANE Select	NP_000009.1:p.Ter656Cys
NM_001033859.3:c.1902A>C	NP_001029031.1:p.Ter634Cys
NM_001270447.2:c.2037A>C	NP_001257376.1:p.Ter679Cys
NM_001270448.2:c.1740A>C	NP_001257377.1:p.Ter580Cys