Canonical Allele Identifier: CA2635787397

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225129-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225129T>A , CM000679.2:g.7225129T>A	GRCh38
NC_000017.10:g.7128448T>A , CM000679.1:g.7128448T>A	GRCh37
NC_000017.9:g.7069172T>A	NCBI36
NG_007975.1:g.10296T>A
NG_033038.1:g.14416A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*32T>A MANE Select	ENSP00000349297.5:n.*32T>A
ENST00000322910.9:c.*1955T>A	ENSP00000325395.5:n.*1955T>A
ENST00000350303.9:c.*32T>A	ENSP00000344152.5:n.*32T>A
ENST00000356839.9:c.*32T>A	ENSP00000349297.5:n.*32T>A
ENST00000542255.6:c.879T>A
ENST00000543245.6:c.*32T>A	ENSP00000438689.2:n.*32T>A
ENST00000578033.1:n.425T>A
ENST00000578319.5:n.581T>A
ENST00000578711.1:n.1625T>A
ENST00000578809.5:n.572T>A
ENST00000579425.5:n.1116T>A
ENST00000583848.5:c.366T>A	ENSP00000466487.1:n.366T>A
ENST00000583850.5:n.771T>A
ENST00000583858.5:c.931T>A
NM_000018.3:c.*32T>A	NP_000009.1:n.*32T>A
NM_001033859.2:c.*32T>A	NP_001029031.1:n.*32T>A
NM_001270447.1:c.*32T>A	NP_001257376.1:n.*32T>A
NM_001270448.1:c.*32T>A	NP_001257377.1:n.*32T>A
XM_006721516.2:c.*32T>A	XP_006721579.2:n.*32T>A
XM_011523829.1:c.*32T>A	XP_011522131.1:n.*32T>A
XM_011523830.1:c.*32T>A	XP_011522132.1:n.*32T>A
XR_934021.1:n.2103T>A
XR_934022.1:n.2009T>A
XR_934023.1:n.2030T>A
XM_006721516.3:c.*32T>A	XP_006721579.2:n.*32T>A
XM_011523829.2:c.*32T>A	XP_011522131.1:n.*32T>A
XM_011523830.2:c.*32T>A	XP_011522132.1:n.*32T>A
XM_024450741.1:c.*32T>A	XP_024306509.1:n.*32T>A
XR_934021.2:n.2055T>A
XR_934022.2:n.1961T>A
XR_934023.2:n.1982T>A
NM_000018.4:c.*32T>A MANE Select	NP_000009.1:n.*32T>A
NM_001033859.3:c.*32T>A	NP_001029031.1:n.*32T>A
NM_001270447.2:c.*32T>A	NP_001257376.1:n.*32T>A
NM_001270448.2:c.*32T>A	NP_001257377.1:n.*32T>A