Canonical Allele Identifier: CA497621333

Gene: ACADVL MIR324

Linked Data

• MyVariant Identifiers: chr17:g.7126657C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223338C>T , CM000679.2:g.7223338C>T	GRCh38
NC_000017.10:g.7126657C>T , CM000679.1:g.7126657C>T	GRCh37
NC_000017.9:g.7067381C>T	NCBI36
NG_007975.1:g.8505C>T
NG_008391.2:g.1713G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1182+101C>T (ACADVL) MANE Select	ENSP00000349297.5:n.1182+101C>T
ENST00000322910.9:c.*1137+101C>T (ACADVL)	ENSP00000325395.5:n.*1137+101C>T
ENST00000350303.9:c.1116+101C>T (ACADVL)	ENSP00000344152.5:n.1116+101C>T
ENST00000356839.9:c.1182+101C>T (ACADVL)	ENSP00000349297.5:n.1182+101C>T
ENST00000542255.6:c.40+101C>T (ACADVL)
ENST00000543245.6:c.1251+101C>T (ACADVL)	ENSP00000438689.2:n.1251+101C>T
ENST00000578579.2:n.132-84C>T (ACADVL)
ENST00000578824.5:n.598+101C>T (ACADVL)
ENST00000579425.5:n.206+101C>T (ACADVL)
ENST00000579546.1:c.19+101C>T (ACADVL)
ENST00000583858.5:c.211+101C>T (ACADVL)
ENST00000585203.6:n.390+101C>T (ACADVL)
NM_000018.3:c.1182+101C>T (ACADVL)	NP_000009.1:n.1182+101C>T
NM_001033859.2:c.1116+101C>T (ACADVL)	NP_001029031.1:n.1116+101C>T
NM_001270447.1:c.1251+101C>T (ACADVL)	NP_001257376.1:n.1251+101C>T
NM_001270448.1:c.954+101C>T (ACADVL)	NP_001257377.1:n.954+101C>T
NR_029896.1:n.42G>A (MIR324)
XM_006721516.2:c.1182+101C>T (ACADVL)	XP_006721579.2:n.1182+101C>T
XM_011523829.1:c.1182+101C>T (ACADVL)	XP_011522131.1:n.1182+101C>T
XM_011523830.1:c.1182+101C>T (ACADVL)	XP_011522132.1:n.1182+101C>T
XR_934021.1:n.1289+101C>T (ACADVL)
XR_934022.1:n.1289+101C>T (ACADVL)
XR_934023.1:n.1289+101C>T (ACADVL)
XM_006721516.3:c.1182+101C>T (ACADVL)	XP_006721579.2:n.1182+101C>T
XM_011523829.2:c.1182+101C>T (ACADVL)	XP_011522131.1:n.1182+101C>T
XM_011523830.2:c.1182+101C>T (ACADVL)	XP_011522132.1:n.1182+101C>T
XM_024450741.1:c.1182+101C>T (ACADVL)	XP_024306509.1:n.1182+101C>T
XR_934021.2:n.1241+101C>T (ACADVL)
XR_934022.2:n.1241+101C>T (ACADVL)
XR_934023.2:n.1241+101C>T (ACADVL)
NM_000018.4:c.1182+101C>T (ACADVL) MANE Select	NP_000009.1:n.1182+101C>T
NM_001033859.3:c.1116+101C>T (ACADVL)	NP_001029031.1:n.1116+101C>T
NM_001270447.2:c.1251+101C>T (ACADVL)	NP_001257376.1:n.1251+101C>T
NM_001270448.2:c.954+101C>T (ACADVL)	NP_001257377.1:n.954+101C>T