Canonical Allele Identifier: CA8338319

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932841
• ClinVar RCV Id: RCV001200797 ; RCV001638052 ; RCV003973137
• dbSNP Id: rs370513576
• ExAC: 17:7128424 C / T
• gnomAD v2: 17-7128424-C-T
• gnomAD v3: 17-7225105-C-T
• gnomAD v4: 17-7225105-C-T
• MyVariant Identifiers: chr17:g.7128424C>T (hg19) ; chr17:g.7225105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225105C>T , CM000679.2:g.7225105C>T	GRCh38
NC_000017.10:g.7128424C>T , CM000679.1:g.7128424C>T	GRCh37
NC_000017.9:g.7069148C>T	NCBI36
NG_007975.1:g.10272C>T
NG_033038.1:g.14440G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*8C>T MANE Select	ENSP00000349297.5:n.*8C>T
ENST00000322910.9:c.*1931C>T	ENSP00000325395.5:n.*1931C>T
ENST00000350303.9:c.*8C>T	ENSP00000344152.5:n.*8C>T
ENST00000356839.9:c.*8C>T	ENSP00000349297.5:n.*8C>T
ENST00000542255.6:c.855C>T
ENST00000543245.6:c.*8C>T	ENSP00000438689.2:n.*8C>T
ENST00000578033.1:n.401C>T
ENST00000578319.5:n.557C>T
ENST00000578711.1:n.1601C>T
ENST00000578809.5:n.548C>T
ENST00000579425.5:n.1092C>T
ENST00000583848.5:c.342C>T	ENSP00000466487.1:n.342C>T
ENST00000583850.5:n.747C>T
ENST00000583858.5:c.907C>T
NM_000018.3:c.*8C>T	NP_000009.1:n.*8C>T
NM_001033859.2:c.*8C>T	NP_001029031.1:n.*8C>T
NM_001270447.1:c.*8C>T	NP_001257376.1:n.*8C>T
NM_001270448.1:c.*8C>T	NP_001257377.1:n.*8C>T
XM_006721516.2:c.*8C>T	XP_006721579.2:n.*8C>T
XM_011523829.1:c.*8C>T	XP_011522131.1:n.*8C>T
XM_011523830.1:c.*8C>T	XP_011522132.1:n.*8C>T
XR_934021.1:n.2079C>T
XR_934022.1:n.1985C>T
XR_934023.1:n.2006C>T
XM_006721516.3:c.*8C>T	XP_006721579.2:n.*8C>T
XM_011523829.2:c.*8C>T	XP_011522131.1:n.*8C>T
XM_011523830.2:c.*8C>T	XP_011522132.1:n.*8C>T
XM_024450741.1:c.*8C>T	XP_024306509.1:n.*8C>T
XR_934021.2:n.2031C>T
XR_934022.2:n.1937C>T
XR_934023.2:n.1958C>T
NM_000018.4:c.*8C>T MANE Select	NP_000009.1:n.*8C>T
NM_001033859.3:c.*8C>T	NP_001029031.1:n.*8C>T
NM_001270447.2:c.*8C>T	NP_001257376.1:n.*8C>T
NM_001270448.2:c.*8C>T	NP_001257377.1:n.*8C>T