Canonical Allele Identifier: CA2580094777

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2118126
• ClinVar RCV Id: RCV003039465
• gnomAD v4: 17-7222875-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222875C>G , CM000679.2:g.7222875C>G	GRCh38
NC_000017.10:g.7126194C>G , CM000679.1:g.7126194C>G	GRCh37
NC_000017.9:g.7066918C>G	NCBI36
NG_007975.1:g.8042C>G
NG_008391.2:g.2176G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1077+10C>G MANE Select	ENSP00000349297.5:n.1077+10C>G
ENST00000322910.9:c.*1032+10C>G	ENSP00000325395.5:n.*1032+10C>G
ENST00000350303.9:c.1011+10C>G	ENSP00000344152.5:n.1011+10C>G
ENST00000356839.9:c.1077+10C>G	ENSP00000349297.5:n.1077+10C>G
ENST00000543245.6:c.1146+10C>G	ENSP00000438689.2:n.1146+10C>G
ENST00000578824.5:n.236C>G
ENST00000582379.1:n.471C>G
ENST00000583858.5:c.106+10C>G
ENST00000585203.6:n.28C>G
NM_000018.3:c.1077+10C>G	NP_000009.1:n.1077+10C>G
NM_001033859.2:c.1011+10C>G	NP_001029031.1:n.1011+10C>G
NM_001270447.1:c.1146+10C>G	NP_001257376.1:n.1146+10C>G
NM_001270448.1:c.849+10C>G	NP_001257377.1:n.849+10C>G
XM_006721516.2:c.1077+10C>G	XP_006721579.2:n.1077+10C>G
XM_011523829.1:c.1077+10C>G	XP_011522131.1:n.1077+10C>G
XM_011523830.1:c.1077+10C>G	XP_011522132.1:n.1077+10C>G
XR_934021.1:n.1184+10C>G
XR_934022.1:n.1184+10C>G
XR_934023.1:n.1184+10C>G
XM_006721516.3:c.1077+10C>G	XP_006721579.2:n.1077+10C>G
XM_011523829.2:c.1077+10C>G	XP_011522131.1:n.1077+10C>G
XM_011523830.2:c.1077+10C>G	XP_011522132.1:n.1077+10C>G
XM_024450741.1:c.1077+10C>G	XP_024306509.1:n.1077+10C>G
XR_934021.2:n.1136+10C>G
XR_934022.2:n.1136+10C>G
XR_934023.2:n.1136+10C>G
NM_000018.4:c.1077+10C>G MANE Select	NP_000009.1:n.1077+10C>G
NM_001033859.3:c.1011+10C>G	NP_001029031.1:n.1011+10C>G
NM_001270447.2:c.1146+10C>G	NP_001257376.1:n.1146+10C>G
NM_001270448.2:c.849+10C>G	NP_001257377.1:n.849+10C>G