Canonical Allele Identifier: CA397725973

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128202A>T (hg19) ; chr17:g.7224883A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224883A>T , CM000679.2:g.7224883A>T	GRCh38
NC_000017.10:g.7128202A>T , CM000679.1:g.7128202A>T	GRCh37
NC_000017.9:g.7068926A>T	NCBI36
NG_007975.1:g.10050A>T
NG_008391.2:g.168T>A
NG_033038.1:g.14662T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1826A>T MANE Select	ENSP00000349297.5:p.Glu609Val
ENST00000322910.9:c.*1781A>T	ENSP00000325395.5:n.*1781A>T
ENST00000350303.9:c.1760A>T	ENSP00000344152.5:p.Glu587Val
ENST00000356839.9:c.1826A>T	ENSP00000349297.5:p.Glu609Val
ENST00000542255.6:c.705A>T
ENST00000543245.6:c.1895A>T	ENSP00000438689.2:p.Glu632Val
ENST00000578033.1:n.251A>T
ENST00000578319.5:n.407A>T
ENST00000578711.1:n.1379A>T
ENST00000578809.5:n.398A>T
ENST00000579425.5:n.942A>T
ENST00000579546.1:c.561A>T
ENST00000583848.5:c.192A>T	ENSP00000466487.1:n.192A>T
ENST00000583850.5:n.597A>T
ENST00000583858.5:c.757A>T
NM_000018.3:c.1826A>T	NP_000009.1:p.Glu609Val
NM_001033859.2:c.1760A>T	NP_001029031.1:p.Glu587Val
NM_001270447.1:c.1895A>T	NP_001257376.1:p.Glu632Val
NM_001270448.1:c.1598A>T	NP_001257377.1:p.Glu533Val
XM_006721516.2:c.1847A>T	XP_006721579.2:p.Glu616Val
XM_011523829.1:c.1745A>T	XP_011522131.1:p.Glu582Val
XM_011523830.1:c.1724A>T	XP_011522132.1:p.Glu575Val
XR_934021.1:n.1929A>T
XR_934022.1:n.1835A>T
XR_934023.1:n.1856A>T
XM_006721516.3:c.1847A>T	XP_006721579.2:p.Glu616Val
XM_011523829.2:c.1745A>T	XP_011522131.1:p.Glu582Val
XM_011523830.2:c.1724A>T	XP_011522132.1:p.Glu575Val
XM_024450741.1:c.1814A>T	XP_024306509.1:p.Glu605Val
XR_934021.2:n.1881A>T
XR_934022.2:n.1787A>T
XR_934023.2:n.1808A>T
NM_000018.4:c.1826A>T MANE Select	NP_000009.1:p.Glu609Val
NM_001033859.3:c.1760A>T	NP_001029031.1:p.Glu587Val
NM_001270447.2:c.1895A>T	NP_001257376.1:p.Glu632Val
NM_001270448.2:c.1598A>T	NP_001257377.1:p.Glu533Val