Canonical Allele Identifier: CA8337763

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 845611
• ClinVar RCV Id: RCV001048713 ; RCV002355029
• dbSNP Id: rs199763196
• ExAC: 17:7124962 A / G
• gnomAD v2: 17-7124962-A-G
• gnomAD v3: 17-7221643-A-G
• gnomAD v4: 17-7221643-A-G
• MyVariant Identifiers: chr17:g.7124962A>G (hg19) ; chr17:g.7221643A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221643A>G , CM000679.2:g.7221643A>G	GRCh38
NC_000017.10:g.7124962A>G , CM000679.1:g.7124962A>G	GRCh37
NC_000017.9:g.7065686A>G	NCBI36
NG_007975.1:g.6810A>G
NG_008391.2:g.3408T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.583A>G MANE Select	ENSP00000349297.5:p.Lys195Glu
ENST00000322910.9:c.*538A>G	ENSP00000325395.5:n.*538A>G
ENST00000350303.9:c.517A>G	ENSP00000344152.5:p.Lys173Glu
ENST00000356839.9:c.583A>G	ENSP00000349297.5:p.Lys195Glu
ENST00000543245.6:c.652A>G	ENSP00000438689.2:p.Lys218Glu
ENST00000577191.5:n.660A>G
ENST00000577433.5:n.791A>G
ENST00000577857.5:n.399A>G
ENST00000579286.5:n.764A>G
ENST00000579886.2:c.421A>G	ENSP00000463246.1:p.Lys141Glu
ENST00000580365.1:n.314A>G
ENST00000581378.5:c.301A>G
ENST00000581562.5:n.525-309A>G
ENST00000583312.5:c.583A>G	ENSP00000467920.1:p.Lys195Glu
ENST00000583760.1:n.365A>G
NM_000018.3:c.583A>G	NP_000009.1:p.Lys195Glu
NM_001033859.2:c.517A>G	NP_001029031.1:p.Lys173Glu
NM_001270447.1:c.652A>G	NP_001257376.1:p.Lys218Glu
NM_001270448.1:c.355A>G	NP_001257377.1:p.Lys119Glu
XM_006721516.2:c.583A>G	XP_006721579.2:p.Lys195Glu
XM_011523829.1:c.583A>G	XP_011522131.1:p.Lys195Glu
XM_011523830.1:c.583A>G	XP_011522132.1:p.Lys195Glu
XR_934021.1:n.690A>G
XR_934022.1:n.690A>G
XR_934023.1:n.690A>G
XM_006721516.3:c.583A>G	XP_006721579.2:p.Lys195Glu
XM_011523829.2:c.583A>G	XP_011522131.1:p.Lys195Glu
XM_011523830.2:c.583A>G	XP_011522132.1:p.Lys195Glu
XM_024450741.1:c.583A>G	XP_024306509.1:p.Lys195Glu
XR_934021.2:n.642A>G
XR_934022.2:n.642A>G
XR_934023.2:n.642A>G
NM_000018.4:c.583A>G MANE Select	NP_000009.1:p.Lys195Glu
NM_001033859.3:c.517A>G	NP_001029031.1:p.Lys173Glu
NM_001270447.2:c.652A>G	NP_001257376.1:p.Lys218Glu
NM_001270448.2:c.355A>G	NP_001257377.1:p.Lys119Glu