Canonical Allele Identifier: CA8338320

Gene: ACADVL

Linked Data

• dbSNP Id: rs761514550
• ExAC: 17:7128425 G / A
• gnomAD v2: 17-7128425-G-A
• gnomAD v3: 17-7225106-G-A
• gnomAD v4: 17-7225106-G-A
• MyVariant Identifiers: chr17:g.7128425G>A (hg19) ; chr17:g.7225106G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225106G>A , CM000679.2:g.7225106G>A	GRCh38
NC_000017.10:g.7128425G>A , CM000679.1:g.7128425G>A	GRCh37
NC_000017.9:g.7069149G>A	NCBI36
NG_007975.1:g.10273G>A
NG_033038.1:g.14439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*9G>A MANE Select	ENSP00000349297.5:n.*9G>A
ENST00000322910.9:c.*1932G>A	ENSP00000325395.5:n.*1932G>A
ENST00000350303.9:c.*9G>A	ENSP00000344152.5:n.*9G>A
ENST00000356839.9:c.*9G>A	ENSP00000349297.5:n.*9G>A
ENST00000542255.6:c.856G>A
ENST00000543245.6:c.*9G>A	ENSP00000438689.2:n.*9G>A
ENST00000578033.1:n.402G>A
ENST00000578319.5:n.558G>A
ENST00000578711.1:n.1602G>A
ENST00000578809.5:n.549G>A
ENST00000579425.5:n.1093G>A
ENST00000583848.5:c.343G>A	ENSP00000466487.1:n.343G>A
ENST00000583850.5:n.748G>A
ENST00000583858.5:c.908G>A
NM_000018.3:c.*9G>A	NP_000009.1:n.*9G>A
NM_001033859.2:c.*9G>A	NP_001029031.1:n.*9G>A
NM_001270447.1:c.*9G>A	NP_001257376.1:n.*9G>A
NM_001270448.1:c.*9G>A	NP_001257377.1:n.*9G>A
XM_006721516.2:c.*9G>A	XP_006721579.2:n.*9G>A
XM_011523829.1:c.*9G>A	XP_011522131.1:n.*9G>A
XM_011523830.1:c.*9G>A	XP_011522132.1:n.*9G>A
XR_934021.1:n.2080G>A
XR_934022.1:n.1986G>A
XR_934023.1:n.2007G>A
XM_006721516.3:c.*9G>A	XP_006721579.2:n.*9G>A
XM_011523829.2:c.*9G>A	XP_011522131.1:n.*9G>A
XM_011523830.2:c.*9G>A	XP_011522132.1:n.*9G>A
XM_024450741.1:c.*9G>A	XP_024306509.1:n.*9G>A
XR_934021.2:n.2032G>A
XR_934022.2:n.1938G>A
XR_934023.2:n.1959G>A
NM_000018.4:c.*9G>A MANE Select	NP_000009.1:n.*9G>A
NM_001033859.3:c.*9G>A	NP_001029031.1:n.*9G>A
NM_001270447.2:c.*9G>A	NP_001257376.1:n.*9G>A
NM_001270448.2:c.*9G>A	NP_001257377.1:n.*9G>A