Canonical Allele Identifier: CA397725092

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932809
• ClinVar RCV Id: RCV001200758
• dbSNP Id: rs2071357577
• MyVariant Identifiers: chr17:g.7127383T>C (hg19) ; chr17:g.7224064T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224064T>C , CM000679.2:g.7224064T>C	GRCh38
NC_000017.10:g.7127383T>C , CM000679.1:g.7127383T>C	GRCh37
NC_000017.9:g.7068107T>C	NCBI36
NG_007975.1:g.9231T>C
NG_008391.2:g.987A>G
NG_033038.1:g.15481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1429T>C MANE Select	ENSP00000349297.5:p.Cys477Arg
ENST00000322910.9:c.*1384T>C	ENSP00000325395.5:n.*1384T>C
ENST00000350303.9:c.1363T>C	ENSP00000344152.5:p.Cys455Arg
ENST00000356839.9:c.1429T>C	ENSP00000349297.5:p.Cys477Arg
ENST00000542255.6:c.287T>C
ENST00000543245.6:c.1498T>C	ENSP00000438689.2:p.Cys500Arg
ENST00000578711.1:n.560T>C
ENST00000579425.5:n.545T>C
ENST00000579546.1:c.266T>C
ENST00000579894.5:n.140T>C
ENST00000583074.5:n.148T>C
ENST00000583850.5:n.204T>C
ENST00000583858.5:c.458T>C
ENST00000585203.6:n.620T>C
NM_000018.3:c.1429T>C	NP_000009.1:p.Cys477Arg
NM_001033859.2:c.1363T>C	NP_001029031.1:p.Cys455Arg
NM_001270447.1:c.1498T>C	NP_001257376.1:p.Cys500Arg
NM_001270448.1:c.1201T>C	NP_001257377.1:p.Cys401Arg
XM_006721516.2:c.1429T>C	XP_006721579.2:p.Cys477Arg
XM_011523829.1:c.1429T>C	XP_011522131.1:p.Cys477Arg
XM_011523830.1:c.1429T>C	XP_011522132.1:p.Cys477Arg
XR_934021.1:n.1536T>C
XR_934022.1:n.1536T>C
XR_934023.1:n.1536T>C
XM_006721516.3:c.1429T>C	XP_006721579.2:p.Cys477Arg
XM_011523829.2:c.1429T>C	XP_011522131.1:p.Cys477Arg
XM_011523830.2:c.1429T>C	XP_011522132.1:p.Cys477Arg
XM_024450741.1:c.1429T>C	XP_024306509.1:p.Cys477Arg
XR_934021.2:n.1488T>C
XR_934022.2:n.1488T>C
XR_934023.2:n.1488T>C
NM_000018.4:c.1429T>C MANE Select	NP_000009.1:p.Cys477Arg
NM_001033859.3:c.1363T>C	NP_001029031.1:p.Cys455Arg
NM_001270447.2:c.1498T>C	NP_001257376.1:p.Cys500Arg
NM_001270448.2:c.1201T>C	NP_001257377.1:p.Cys401Arg