Canonical Allele Identifier: CA497621359

Gene: ACADVL MIR324

Linked Data

• gnomAD v4: 17-7223342-A-G
• MyVariant Identifiers: chr17:g.7126661A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223342A>G , CM000679.2:g.7223342A>G	GRCh38
NC_000017.10:g.7126661A>G , CM000679.1:g.7126661A>G	GRCh37
NC_000017.9:g.7067385A>G	NCBI36
NG_007975.1:g.8509A>G
NG_008391.2:g.1709T>C
NG_033038.1:g.16203T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1182+105A>G (ACADVL) MANE Select	ENSP00000349297.5:n.1182+105A>G
ENST00000322910.9:c.*1137+105A>G (ACADVL)	ENSP00000325395.5:n.*1137+105A>G
ENST00000350303.9:c.1116+105A>G (ACADVL)	ENSP00000344152.5:n.1116+105A>G
ENST00000356839.9:c.1182+105A>G (ACADVL)	ENSP00000349297.5:n.1182+105A>G
ENST00000542255.6:c.40+105A>G (ACADVL)
ENST00000543245.6:c.1251+105A>G (ACADVL)	ENSP00000438689.2:n.1251+105A>G
ENST00000578579.2:n.132-80A>G (ACADVL)
ENST00000578824.5:n.598+105A>G (ACADVL)
ENST00000579425.5:n.206+105A>G (ACADVL)
ENST00000579546.1:c.19+105A>G (ACADVL)
ENST00000583858.5:c.211+105A>G (ACADVL)
ENST00000585203.6:n.390+105A>G (ACADVL)
NM_000018.3:c.1182+105A>G (ACADVL)	NP_000009.1:n.1182+105A>G
NM_001033859.2:c.1116+105A>G (ACADVL)	NP_001029031.1:n.1116+105A>G
NM_001270447.1:c.1251+105A>G (ACADVL)	NP_001257376.1:n.1251+105A>G
NM_001270448.1:c.954+105A>G (ACADVL)	NP_001257377.1:n.954+105A>G
NR_029896.1:n.38T>C (MIR324)
XM_006721516.2:c.1182+105A>G (ACADVL)	XP_006721579.2:n.1182+105A>G
XM_011523829.1:c.1182+105A>G (ACADVL)	XP_011522131.1:n.1182+105A>G
XM_011523830.1:c.1182+105A>G (ACADVL)	XP_011522132.1:n.1182+105A>G
XR_934021.1:n.1289+105A>G (ACADVL)
XR_934022.1:n.1289+105A>G (ACADVL)
XR_934023.1:n.1289+105A>G (ACADVL)
XM_006721516.3:c.1182+105A>G (ACADVL)	XP_006721579.2:n.1182+105A>G
XM_011523829.2:c.1182+105A>G (ACADVL)	XP_011522131.1:n.1182+105A>G
XM_011523830.2:c.1182+105A>G (ACADVL)	XP_011522132.1:n.1182+105A>G
XM_024450741.1:c.1182+105A>G (ACADVL)	XP_024306509.1:n.1182+105A>G
XR_934021.2:n.1241+105A>G (ACADVL)
XR_934022.2:n.1241+105A>G (ACADVL)
XR_934023.2:n.1241+105A>G (ACADVL)
NM_000018.4:c.1182+105A>G (ACADVL) MANE Select	NP_000009.1:n.1182+105A>G
NM_001033859.3:c.1116+105A>G (ACADVL)	NP_001029031.1:n.1116+105A>G
NM_001270447.2:c.1251+105A>G (ACADVL)	NP_001257376.1:n.1251+105A>G
NM_001270448.2:c.954+105A>G (ACADVL)	NP_001257377.1:n.954+105A>G