Canonical Allele Identifier: CA397723509

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 928887
• ClinVar RCV Id: RCV001193468 ; RCV001828597
• dbSNP Id: rs1189763523
• gnomAD v2: 17-7125357-T-C
• gnomAD v4: 17-7222038-T-C
• COSMIC: COSM1385931
• MyVariant Identifiers: chr17:g.7125357T>C (hg19) ; chr17:g.7222038T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222038T>C , CM000679.2:g.7222038T>C	GRCh38
NC_000017.10:g.7125357T>C , CM000679.1:g.7125357T>C	GRCh37
NC_000017.9:g.7066081T>C	NCBI36
NG_007975.1:g.7205T>C
NG_008391.2:g.3013A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.709T>C MANE Select	ENSP00000349297.5:p.Cys237Arg
ENST00000322910.9:c.*664T>C	ENSP00000325395.5:n.*664T>C
ENST00000350303.9:c.643T>C	ENSP00000344152.5:p.Cys215Arg
ENST00000356839.9:c.709T>C	ENSP00000349297.5:p.Cys237Arg
ENST00000543245.6:c.778T>C	ENSP00000438689.2:p.Cys260Arg
ENST00000577191.5:n.786T>C
ENST00000577857.5:n.525T>C
ENST00000579286.5:n.890T>C
ENST00000580365.1:n.440T>C
ENST00000581378.5:c.427T>C
ENST00000582379.1:n.93T>C
ENST00000583760.1:n.491T>C
NM_000018.3:c.709T>C	NP_000009.1:p.Cys237Arg
NM_001033859.2:c.643T>C	NP_001029031.1:p.Cys215Arg
NM_001270447.1:c.778T>C	NP_001257376.1:p.Cys260Arg
NM_001270448.1:c.481T>C	NP_001257377.1:p.Cys161Arg
XM_006721516.2:c.709T>C	XP_006721579.2:p.Cys237Arg
XM_011523829.1:c.709T>C	XP_011522131.1:p.Cys237Arg
XM_011523830.1:c.709T>C	XP_011522132.1:p.Cys237Arg
XR_934021.1:n.816T>C
XR_934022.1:n.816T>C
XR_934023.1:n.816T>C
XM_006721516.3:c.709T>C	XP_006721579.2:p.Cys237Arg
XM_011523829.2:c.709T>C	XP_011522131.1:p.Cys237Arg
XM_011523830.2:c.709T>C	XP_011522132.1:p.Cys237Arg
XM_024450741.1:c.709T>C	XP_024306509.1:p.Cys237Arg
XR_934021.2:n.768T>C
XR_934022.2:n.768T>C
XR_934023.2:n.768T>C
NM_000018.4:c.709T>C MANE Select	NP_000009.1:p.Cys237Arg
NM_001033859.3:c.643T>C	NP_001029031.1:p.Cys215Arg
NM_001270447.2:c.778T>C	NP_001257376.1:p.Cys260Arg
NM_001270448.2:c.481T>C	NP_001257377.1:p.Cys161Arg