Canonical Allele Identifier: CA397725901

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128172A>G (hg19) ; chr17:g.7224853A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224853A>G , CM000679.2:g.7224853A>G	GRCh38
NC_000017.10:g.7128172A>G , CM000679.1:g.7128172A>G	GRCh37
NC_000017.9:g.7068896A>G	NCBI36
NG_007975.1:g.10020A>G
NG_008391.2:g.198T>C
NG_033038.1:g.14692T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1796A>G MANE Select	ENSP00000349297.5:p.Glu599Gly
ENST00000322910.9:c.*1751A>G	ENSP00000325395.5:n.*1751A>G
ENST00000350303.9:c.1730A>G	ENSP00000344152.5:p.Glu577Gly
ENST00000356839.9:c.1796A>G	ENSP00000349297.5:p.Glu599Gly
ENST00000542255.6:c.675A>G
ENST00000543245.6:c.1865A>G	ENSP00000438689.2:p.Glu622Gly
ENST00000578033.1:n.221A>G
ENST00000578319.5:n.377A>G
ENST00000578711.1:n.1349A>G
ENST00000578809.5:n.368A>G
ENST00000579425.5:n.912A>G
ENST00000579546.1:c.531A>G
ENST00000583848.5:c.162A>G	ENSP00000466487.1:n.162A>G
ENST00000583850.5:n.567A>G
ENST00000583858.5:c.727A>G
NM_000018.3:c.1796A>G	NP_000009.1:p.Glu599Gly
NM_001033859.2:c.1730A>G	NP_001029031.1:p.Glu577Gly
NM_001270447.1:c.1865A>G	NP_001257376.1:p.Glu622Gly
NM_001270448.1:c.1568A>G	NP_001257377.1:p.Glu523Gly
XM_006721516.2:c.1817A>G	XP_006721579.2:p.Glu606Gly
XM_011523829.1:c.1715A>G	XP_011522131.1:p.Glu572Gly
XM_011523830.1:c.1694A>G	XP_011522132.1:p.Glu565Gly
XR_934021.1:n.1899A>G
XR_934022.1:n.1805A>G
XR_934023.1:n.1826A>G
XM_006721516.3:c.1817A>G	XP_006721579.2:p.Glu606Gly
XM_011523829.2:c.1715A>G	XP_011522131.1:p.Glu572Gly
XM_011523830.2:c.1694A>G	XP_011522132.1:p.Glu565Gly
XM_024450741.1:c.1784A>G	XP_024306509.1:p.Glu595Gly
XR_934021.2:n.1851A>G
XR_934022.2:n.1757A>G
XR_934023.2:n.1778A>G
NM_000018.4:c.1796A>G MANE Select	NP_000009.1:p.Glu599Gly
NM_001033859.3:c.1730A>G	NP_001029031.1:p.Glu577Gly
NM_001270447.2:c.1865A>G	NP_001257376.1:p.Glu622Gly
NM_001270448.2:c.1568A>G	NP_001257377.1:p.Glu523Gly