Canonical Allele Identifier: CA397724743

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7223813-G-A
• MyVariant Identifiers: chr17:g.7127132G>A (hg19) ; chr17:g.7223813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223813G>A , CM000679.2:g.7223813G>A	GRCh38
NC_000017.10:g.7127132G>A , CM000679.1:g.7127132G>A	GRCh37
NC_000017.9:g.7067856G>A	NCBI36
NG_007975.1:g.8980G>A
NG_008391.2:g.1238C>T
NG_033038.1:g.15732C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1270G>A MANE Select	ENSP00000349297.5:p.Glu424Lys
ENST00000322910.9:c.*1225G>A	ENSP00000325395.5:n.*1225G>A
ENST00000350303.9:c.1204G>A	ENSP00000344152.5:p.Glu402Lys
ENST00000356839.9:c.1270G>A	ENSP00000349297.5:p.Glu424Lys
ENST00000542255.6:c.128G>A
ENST00000543245.6:c.1339G>A	ENSP00000438689.2:p.Glu447Lys
ENST00000578579.2:n.441G>A
ENST00000578711.1:n.309G>A
ENST00000578824.5:n.686G>A
ENST00000579425.5:n.294G>A
ENST00000579546.1:c.107G>A
ENST00000583850.5:n.45G>A
ENST00000583858.5:c.299G>A
ENST00000585203.6:n.478G>A
NM_000018.3:c.1270G>A	NP_000009.1:p.Glu424Lys
NM_001033859.2:c.1204G>A	NP_001029031.1:p.Glu402Lys
NM_001270447.1:c.1339G>A	NP_001257376.1:p.Glu447Lys
NM_001270448.1:c.1042G>A	NP_001257377.1:p.Glu348Lys
XM_006721516.2:c.1270G>A	XP_006721579.2:p.Glu424Lys
XM_011523829.1:c.1270G>A	XP_011522131.1:p.Glu424Lys
XM_011523830.1:c.1270G>A	XP_011522132.1:p.Glu424Lys
XR_934021.1:n.1377G>A
XR_934022.1:n.1377G>A
XR_934023.1:n.1377G>A
XM_006721516.3:c.1270G>A	XP_006721579.2:p.Glu424Lys
XM_011523829.2:c.1270G>A	XP_011522131.1:p.Glu424Lys
XM_011523830.2:c.1270G>A	XP_011522132.1:p.Glu424Lys
XM_024450741.1:c.1270G>A	XP_024306509.1:p.Glu424Lys
XR_934021.2:n.1329G>A
XR_934022.2:n.1329G>A
XR_934023.2:n.1329G>A
NM_000018.4:c.1270G>A MANE Select	NP_000009.1:p.Glu424Lys
NM_001033859.3:c.1204G>A	NP_001029031.1:p.Glu402Lys
NM_001270447.2:c.1339G>A	NP_001257376.1:p.Glu447Lys
NM_001270448.2:c.1042G>A	NP_001257377.1:p.Glu348Lys