Canonical Allele Identifier: CA397724835

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932842
• ClinVar RCV Id: RCV001200798
• dbSNP Id: rs2071345754
• MyVariant Identifiers: chr17:g.7127171A>G (hg19) ; chr17:g.7223852A>G (hg38)
• ERepo: CA397724835/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223852A>G , CM000679.2:g.7223852A>G	GRCh38
NC_000017.10:g.7127171A>G , CM000679.1:g.7127171A>G	GRCh37
NC_000017.9:g.7067895A>G	NCBI36
NG_007975.1:g.9019A>G
NG_008391.2:g.1199T>C
NG_033038.1:g.15693T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1309A>G MANE Select	ENSP00000349297.5:p.Met437Val
ENST00000322910.9:c.*1264A>G	ENSP00000325395.5:n.*1264A>G
ENST00000350303.9:c.1243A>G	ENSP00000344152.5:p.Met415Val
ENST00000356839.9:c.1309A>G	ENSP00000349297.5:p.Met437Val
ENST00000542255.6:c.167A>G
ENST00000543245.6:c.1378A>G	ENSP00000438689.2:p.Met460Val
ENST00000578711.1:n.348A>G
ENST00000579425.5:n.333A>G
ENST00000579546.1:c.146A>G
ENST00000583074.5:n.28A>G
ENST00000583850.5:n.84A>G
ENST00000583858.5:c.338A>G
ENST00000585203.6:n.517A>G
NM_000018.3:c.1309A>G	NP_000009.1:p.Met437Val
NM_001033859.2:c.1243A>G	NP_001029031.1:p.Met415Val
NM_001270447.1:c.1378A>G	NP_001257376.1:p.Met460Val
NM_001270448.1:c.1081A>G	NP_001257377.1:p.Met361Val
XM_006721516.2:c.1309A>G	XP_006721579.2:p.Met437Val
XM_011523829.1:c.1309A>G	XP_011522131.1:p.Met437Val
XM_011523830.1:c.1309A>G	XP_011522132.1:p.Met437Val
XR_934021.1:n.1416A>G
XR_934022.1:n.1416A>G
XR_934023.1:n.1416A>G
XM_006721516.3:c.1309A>G	XP_006721579.2:p.Met437Val
XM_011523829.2:c.1309A>G	XP_011522131.1:p.Met437Val
XM_011523830.2:c.1309A>G	XP_011522132.1:p.Met437Val
XM_024450741.1:c.1309A>G	XP_024306509.1:p.Met437Val
XR_934021.2:n.1368A>G
XR_934022.2:n.1368A>G
XR_934023.2:n.1368A>G
NM_000018.4:c.1309A>G MANE Select	NP_000009.1:p.Met437Val
NM_001033859.3:c.1243A>G	NP_001029031.1:p.Met415Val
NM_001270447.2:c.1378A>G	NP_001257376.1:p.Met460Val
NM_001270448.2:c.1081A>G	NP_001257377.1:p.Met361Val