Canonical Allele Identifier: CA2635781804

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2901859
• ClinVar RCV Id: RCV003601136
• gnomAD v4: 17-7222095-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222095C>T , CM000679.2:g.7222095C>T	GRCh38
NC_000017.10:g.7125414C>T , CM000679.1:g.7125414C>T	GRCh37
NC_000017.9:g.7066138C>T	NCBI36
NG_007975.1:g.7262C>T
NG_008391.2:g.2956G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.752+14C>T MANE Select	ENSP00000349297.5:n.752+14C>T
ENST00000322910.9:c.*707+14C>T	ENSP00000325395.5:n.*707+14C>T
ENST00000350303.9:c.686+14C>T	ENSP00000344152.5:n.686+14C>T
ENST00000356839.9:c.752+14C>T	ENSP00000349297.5:n.752+14C>T
ENST00000543245.6:c.821+14C>T	ENSP00000438689.2:n.821+14C>T
ENST00000577191.5:n.843C>T
ENST00000581378.5:c.470+14C>T
ENST00000582379.1:n.136+14C>T
ENST00000583760.1:n.548C>T
NM_000018.3:c.752+14C>T	NP_000009.1:n.752+14C>T
NM_001033859.2:c.686+14C>T	NP_001029031.1:n.686+14C>T
NM_001270447.1:c.821+14C>T	NP_001257376.1:n.821+14C>T
NM_001270448.1:c.524+14C>T	NP_001257377.1:n.524+14C>T
XM_006721516.2:c.752+14C>T	XP_006721579.2:n.752+14C>T
XM_011523829.1:c.752+14C>T	XP_011522131.1:n.752+14C>T
XM_011523830.1:c.752+14C>T	XP_011522132.1:n.752+14C>T
XR_934021.1:n.859+14C>T
XR_934022.1:n.859+14C>T
XR_934023.1:n.859+14C>T
XM_006721516.3:c.752+14C>T	XP_006721579.2:n.752+14C>T
XM_011523829.2:c.752+14C>T	XP_011522131.1:n.752+14C>T
XM_011523830.2:c.752+14C>T	XP_011522132.1:n.752+14C>T
XM_024450741.1:c.752+14C>T	XP_024306509.1:n.752+14C>T
XR_934021.2:n.811+14C>T
XR_934022.2:n.811+14C>T
XR_934023.2:n.811+14C>T
NM_000018.4:c.752+14C>T MANE Select	NP_000009.1:n.752+14C>T
NM_001033859.3:c.686+14C>T	NP_001029031.1:n.686+14C>T
NM_001270447.2:c.821+14C>T	NP_001257376.1:n.821+14C>T
NM_001270448.2:c.524+14C>T	NP_001257377.1:n.524+14C>T