Canonical Allele Identifier: CA8338008

Gene: ACADVL MIR324

Linked Data

• ClinVar Variation Id: 1197214
• ClinVar RCV Id: RCV001560959
• dbSNP Id: rs200471575
• ExAC: 17:7126698 G / C
• gnomAD v2: 17-7126698-G-C
• gnomAD v3: 17-7223379-G-C
• gnomAD v4: 17-7223379-G-C
• MyVariant Identifiers: chr17:g.7126698G>C (hg19) ; chr17:g.7223379G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223379G>C , CM000679.2:g.7223379G>C	GRCh38
NC_000017.10:g.7126698G>C , CM000679.1:g.7126698G>C	GRCh37
NC_000017.9:g.7067422G>C	NCBI36
NG_007975.1:g.8546G>C
NG_008391.2:g.1672C>G
NG_033038.1:g.16166C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1182+142G>C (ACADVL) MANE Select	ENSP00000349297.5:n.1182+142G>C
ENST00000322910.9:c.*1137+142G>C (ACADVL)	ENSP00000325395.5:n.*1137+142G>C
ENST00000350303.9:c.1116+142G>C (ACADVL)	ENSP00000344152.5:n.1116+142G>C
ENST00000356839.9:c.1182+142G>C (ACADVL)	ENSP00000349297.5:n.1182+142G>C
ENST00000542255.6:c.40+142G>C (ACADVL)
ENST00000543245.6:c.1251+142G>C (ACADVL)	ENSP00000438689.2:n.1251+142G>C
ENST00000578579.2:n.132-43G>C (ACADVL)
ENST00000578824.5:n.598+142G>C (ACADVL)
ENST00000579425.5:n.206+142G>C (ACADVL)
ENST00000579546.1:c.19+142G>C (ACADVL)
ENST00000583858.5:c.211+142G>C (ACADVL)
ENST00000585203.6:n.390+142G>C (ACADVL)
NM_000018.3:c.1182+142G>C (ACADVL)	NP_000009.1:n.1182+142G>C
NM_001033859.2:c.1116+142G>C (ACADVL)	NP_001029031.1:n.1116+142G>C
NM_001270447.1:c.1251+142G>C (ACADVL)	NP_001257376.1:n.1251+142G>C
NM_001270448.1:c.954+142G>C (ACADVL)	NP_001257377.1:n.954+142G>C
NR_029896.1:n.1C>G (MIR324)
XM_006721516.2:c.1182+142G>C (ACADVL)	XP_006721579.2:n.1182+142G>C
XM_011523829.1:c.1182+142G>C (ACADVL)	XP_011522131.1:n.1182+142G>C
XM_011523830.1:c.1182+142G>C (ACADVL)	XP_011522132.1:n.1182+142G>C
XR_934021.1:n.1289+142G>C (ACADVL)
XR_934022.1:n.1289+142G>C (ACADVL)
XR_934023.1:n.1289+142G>C (ACADVL)
XM_006721516.3:c.1182+142G>C (ACADVL)	XP_006721579.2:n.1182+142G>C
XM_011523829.2:c.1182+142G>C (ACADVL)	XP_011522131.1:n.1182+142G>C
XM_011523830.2:c.1182+142G>C (ACADVL)	XP_011522132.1:n.1182+142G>C
XM_024450741.1:c.1182+142G>C (ACADVL)	XP_024306509.1:n.1182+142G>C
XR_934021.2:n.1241+142G>C (ACADVL)
XR_934022.2:n.1241+142G>C (ACADVL)
XR_934023.2:n.1241+142G>C (ACADVL)
NM_000018.4:c.1182+142G>C (ACADVL) MANE Select	NP_000009.1:n.1182+142G>C
NM_001033859.3:c.1116+142G>C (ACADVL)	NP_001029031.1:n.1116+142G>C
NM_001270447.2:c.1251+142G>C (ACADVL)	NP_001257376.1:n.1251+142G>C
NM_001270448.2:c.954+142G>C (ACADVL)	NP_001257377.1:n.954+142G>C