Canonical Allele Identifier: CA2635787373

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225108-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225108C>T , CM000679.2:g.7225108C>T	GRCh38
NC_000017.10:g.7128427C>T , CM000679.1:g.7128427C>T	GRCh37
NC_000017.9:g.7069151C>T	NCBI36
NG_007975.1:g.10275C>T
NG_033038.1:g.14437G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*11C>T MANE Select	ENSP00000349297.5:n.*11C>T
ENST00000322910.9:c.*1934C>T	ENSP00000325395.5:n.*1934C>T
ENST00000350303.9:c.*11C>T	ENSP00000344152.5:n.*11C>T
ENST00000356839.9:c.*11C>T	ENSP00000349297.5:n.*11C>T
ENST00000542255.6:c.858C>T
ENST00000543245.6:c.*11C>T	ENSP00000438689.2:n.*11C>T
ENST00000578033.1:n.404C>T
ENST00000578319.5:n.560C>T
ENST00000578711.1:n.1604C>T
ENST00000578809.5:n.551C>T
ENST00000579425.5:n.1095C>T
ENST00000583848.5:c.345C>T	ENSP00000466487.1:n.345C>T
ENST00000583850.5:n.750C>T
ENST00000583858.5:c.910C>T
NM_000018.3:c.*11C>T	NP_000009.1:n.*11C>T
NM_001033859.2:c.*11C>T	NP_001029031.1:n.*11C>T
NM_001270447.1:c.*11C>T	NP_001257376.1:n.*11C>T
NM_001270448.1:c.*11C>T	NP_001257377.1:n.*11C>T
XM_006721516.2:c.*11C>T	XP_006721579.2:n.*11C>T
XM_011523829.1:c.*11C>T	XP_011522131.1:n.*11C>T
XM_011523830.1:c.*11C>T	XP_011522132.1:n.*11C>T
XR_934021.1:n.2082C>T
XR_934022.1:n.1988C>T
XR_934023.1:n.2009C>T
XM_006721516.3:c.*11C>T	XP_006721579.2:n.*11C>T
XM_011523829.2:c.*11C>T	XP_011522131.1:n.*11C>T
XM_011523830.2:c.*11C>T	XP_011522132.1:n.*11C>T
XM_024450741.1:c.*11C>T	XP_024306509.1:n.*11C>T
XR_934021.2:n.2034C>T
XR_934022.2:n.1940C>T
XR_934023.2:n.1961C>T
NM_000018.4:c.*11C>T MANE Select	NP_000009.1:n.*11C>T
NM_001033859.3:c.*11C>T	NP_001029031.1:n.*11C>T
NM_001270447.2:c.*11C>T	NP_001257376.1:n.*11C>T
NM_001270448.2:c.*11C>T	NP_001257377.1:n.*11C>T