Canonical Allele Identifier: CA2580094786

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2065385
• ClinVar RCV Id: RCV002929053
• gnomAD v4: 17-7223750-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223750G>A , CM000679.2:g.7223750G>A	GRCh38
NC_000017.10:g.7127069G>A , CM000679.1:g.7127069G>A	GRCh37
NC_000017.9:g.7067793G>A	NCBI36
NG_007975.1:g.8917G>A
NG_008391.2:g.1301C>T
NG_033038.1:g.15795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1269+20G>A MANE Select	ENSP00000349297.5:n.1269+20G>A
ENST00000322910.9:c.*1224+20G>A	ENSP00000325395.5:n.*1224+20G>A
ENST00000350303.9:c.1203+20G>A	ENSP00000344152.5:n.1203+20G>A
ENST00000356839.9:c.1269+20G>A	ENSP00000349297.5:n.1269+20G>A
ENST00000542255.6:c.127+20G>A
ENST00000543245.6:c.1338+20G>A	ENSP00000438689.2:n.1338+20G>A
ENST00000578579.2:n.440+20G>A
ENST00000578711.1:n.246G>A
ENST00000578824.5:n.685+20G>A
ENST00000579425.5:n.293+20G>A
ENST00000579546.1:c.106+20G>A
ENST00000583850.5:n.44+20G>A
ENST00000583858.5:c.298+20G>A
ENST00000585203.6:n.477+20G>A
NM_000018.3:c.1269+20G>A	NP_000009.1:n.1269+20G>A
NM_001033859.2:c.1203+20G>A	NP_001029031.1:n.1203+20G>A
NM_001270447.1:c.1338+20G>A	NP_001257376.1:n.1338+20G>A
NM_001270448.1:c.1041+20G>A	NP_001257377.1:n.1041+20G>A
XM_006721516.2:c.1269+20G>A	XP_006721579.2:n.1269+20G>A
XM_011523829.1:c.1269+20G>A	XP_011522131.1:n.1269+20G>A
XM_011523830.1:c.1269+20G>A	XP_011522132.1:n.1269+20G>A
XR_934021.1:n.1376+20G>A
XR_934022.1:n.1376+20G>A
XR_934023.1:n.1376+20G>A
XM_006721516.3:c.1269+20G>A	XP_006721579.2:n.1269+20G>A
XM_011523829.2:c.1269+20G>A	XP_011522131.1:n.1269+20G>A
XM_011523830.2:c.1269+20G>A	XP_011522132.1:n.1269+20G>A
XM_024450741.1:c.1269+20G>A	XP_024306509.1:n.1269+20G>A
XR_934021.2:n.1328+20G>A
XR_934022.2:n.1328+20G>A
XR_934023.2:n.1328+20G>A
NM_000018.4:c.1269+20G>A MANE Select	NP_000009.1:n.1269+20G>A
NM_001033859.3:c.1203+20G>A	NP_001029031.1:n.1203+20G>A
NM_001270447.2:c.1338+20G>A	NP_001257376.1:n.1338+20G>A
NM_001270448.2:c.1041+20G>A	NP_001257377.1:n.1041+20G>A