Canonical Allele Identifier: CA497621503

Gene: ACADVL MIR324

Linked Data

• gnomAD v4: 17-7223366-G-T
• MyVariant Identifiers: chr17:g.7126685G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223366G>T , CM000679.2:g.7223366G>T	GRCh38
NC_000017.10:g.7126685G>T , CM000679.1:g.7126685G>T	GRCh37
NC_000017.9:g.7067409G>T	NCBI36
NG_007975.1:g.8533G>T
NG_008391.2:g.1685C>A
NG_033038.1:g.16179C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1182+129G>T (ACADVL) MANE Select	ENSP00000349297.5:n.1182+129G>T
ENST00000322910.9:c.*1137+129G>T (ACADVL)	ENSP00000325395.5:n.*1137+129G>T
ENST00000350303.9:c.1116+129G>T (ACADVL)	ENSP00000344152.5:n.1116+129G>T
ENST00000356839.9:c.1182+129G>T (ACADVL)	ENSP00000349297.5:n.1182+129G>T
ENST00000542255.6:c.40+129G>T (ACADVL)
ENST00000543245.6:c.1251+129G>T (ACADVL)	ENSP00000438689.2:n.1251+129G>T
ENST00000578579.2:n.132-56G>T (ACADVL)
ENST00000578824.5:n.598+129G>T (ACADVL)
ENST00000579425.5:n.206+129G>T (ACADVL)
ENST00000579546.1:c.19+129G>T (ACADVL)
ENST00000583858.5:c.211+129G>T (ACADVL)
ENST00000585203.6:n.390+129G>T (ACADVL)
NM_000018.3:c.1182+129G>T (ACADVL)	NP_000009.1:n.1182+129G>T
NM_001033859.2:c.1116+129G>T (ACADVL)	NP_001029031.1:n.1116+129G>T
NM_001270447.1:c.1251+129G>T (ACADVL)	NP_001257376.1:n.1251+129G>T
NM_001270448.1:c.954+129G>T (ACADVL)	NP_001257377.1:n.954+129G>T
NR_029896.1:n.14C>A (MIR324)
XM_006721516.2:c.1182+129G>T (ACADVL)	XP_006721579.2:n.1182+129G>T
XM_011523829.1:c.1182+129G>T (ACADVL)	XP_011522131.1:n.1182+129G>T
XM_011523830.1:c.1182+129G>T (ACADVL)	XP_011522132.1:n.1182+129G>T
XR_934021.1:n.1289+129G>T (ACADVL)
XR_934022.1:n.1289+129G>T (ACADVL)
XR_934023.1:n.1289+129G>T (ACADVL)
XM_006721516.3:c.1182+129G>T (ACADVL)	XP_006721579.2:n.1182+129G>T
XM_011523829.2:c.1182+129G>T (ACADVL)	XP_011522131.1:n.1182+129G>T
XM_011523830.2:c.1182+129G>T (ACADVL)	XP_011522132.1:n.1182+129G>T
XM_024450741.1:c.1182+129G>T (ACADVL)	XP_024306509.1:n.1182+129G>T
XR_934021.2:n.1241+129G>T (ACADVL)
XR_934022.2:n.1241+129G>T (ACADVL)
XR_934023.2:n.1241+129G>T (ACADVL)
NM_000018.4:c.1182+129G>T (ACADVL) MANE Select	NP_000009.1:n.1182+129G>T
NM_001033859.3:c.1116+129G>T (ACADVL)	NP_001029031.1:n.1116+129G>T
NM_001270447.2:c.1251+129G>T (ACADVL)	NP_001257376.1:n.1251+129G>T
NM_001270448.2:c.954+129G>T (ACADVL)	NP_001257377.1:n.954+129G>T