Canonical Allele Identifier: CA658798686

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 513965
• ClinVar RCV Id: RCV000610876 ; RCV002528554
• dbSNP Id: rs376281637
• gnomAD v4: 17-7223240-G-A
• MyVariant Identifiers: chr17:g.7126559G>A (hg19) ; chr17:g.7223240G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223240G>A , CM000679.2:g.7223240G>A	GRCh38
NC_000017.10:g.7126559G>A , CM000679.1:g.7126559G>A	GRCh37
NC_000017.9:g.7067283G>A	NCBI36
NG_007975.1:g.8407G>A
NG_008391.2:g.1811C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1182+3G>A MANE Select	ENSP00000349297.5:n.1182+3G>A
ENST00000322910.9:c.*1137+3G>A	ENSP00000325395.5:n.*1137+3G>A
ENST00000350303.9:c.1116+3G>A	ENSP00000344152.5:n.1116+3G>A
ENST00000356839.9:c.1182+3G>A	ENSP00000349297.5:n.1182+3G>A
ENST00000542255.6:c.40+3G>A
ENST00000543245.6:c.1251+3G>A	ENSP00000438689.2:n.1251+3G>A
ENST00000578579.2:n.131+3G>A
ENST00000578824.5:n.598+3G>A
ENST00000579425.5:n.206+3G>A
ENST00000579546.1:c.19+3G>A
ENST00000583858.5:c.211+3G>A
ENST00000585203.6:n.390+3G>A
NM_000018.3:c.1182+3G>A	NP_000009.1:n.1182+3G>A
NM_001033859.2:c.1116+3G>A	NP_001029031.1:n.1116+3G>A
NM_001270447.1:c.1251+3G>A	NP_001257376.1:n.1251+3G>A
NM_001270448.1:c.954+3G>A	NP_001257377.1:n.954+3G>A
XM_006721516.2:c.1182+3G>A	XP_006721579.2:n.1182+3G>A
XM_011523829.1:c.1182+3G>A	XP_011522131.1:n.1182+3G>A
XM_011523830.1:c.1182+3G>A	XP_011522132.1:n.1182+3G>A
XR_934021.1:n.1289+3G>A
XR_934022.1:n.1289+3G>A
XR_934023.1:n.1289+3G>A
XM_006721516.3:c.1182+3G>A	XP_006721579.2:n.1182+3G>A
XM_011523829.2:c.1182+3G>A	XP_011522131.1:n.1182+3G>A
XM_011523830.2:c.1182+3G>A	XP_011522132.1:n.1182+3G>A
XM_024450741.1:c.1182+3G>A	XP_024306509.1:n.1182+3G>A
XR_934021.2:n.1241+3G>A
XR_934022.2:n.1241+3G>A
XR_934023.2:n.1241+3G>A
NM_000018.4:c.1182+3G>A MANE Select	NP_000009.1:n.1182+3G>A
NM_001033859.3:c.1116+3G>A	NP_001029031.1:n.1116+3G>A
NM_001270447.2:c.1251+3G>A	NP_001257376.1:n.1251+3G>A
NM_001270448.2:c.954+3G>A	NP_001257377.1:n.954+3G>A