Canonical Allele Identifier: CA397726199

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128376A>G (hg19) ; chr17:g.7225057A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225057A>G , CM000679.2:g.7225057A>G	GRCh38
NC_000017.10:g.7128376A>G , CM000679.1:g.7128376A>G	GRCh37
NC_000017.9:g.7069100A>G	NCBI36
NG_007975.1:g.10224A>G
NG_033038.1:g.14488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1928A>G MANE Select	ENSP00000349297.5:p.Glu643Gly
ENST00000322910.9:c.*1883A>G	ENSP00000325395.5:n.*1883A>G
ENST00000350303.9:c.1862A>G	ENSP00000344152.5:p.Glu621Gly
ENST00000356839.9:c.1928A>G	ENSP00000349297.5:p.Glu643Gly
ENST00000542255.6:c.807A>G
ENST00000543245.6:c.1997A>G	ENSP00000438689.2:p.Glu666Gly
ENST00000578033.1:n.353A>G
ENST00000578319.5:n.509A>G
ENST00000578711.1:n.1553A>G
ENST00000578809.5:n.500A>G
ENST00000579425.5:n.1044A>G
ENST00000583848.5:c.294A>G	ENSP00000466487.1:n.294A>G
ENST00000583850.5:n.699A>G
ENST00000583858.5:c.859A>G
NM_000018.3:c.1928A>G	NP_000009.1:p.Glu643Gly
NM_001033859.2:c.1862A>G	NP_001029031.1:p.Glu621Gly
NM_001270447.1:c.1997A>G	NP_001257376.1:p.Glu666Gly
NM_001270448.1:c.1700A>G	NP_001257377.1:p.Glu567Gly
XM_006721516.2:c.1949A>G	XP_006721579.2:p.Glu650Gly
XM_011523829.1:c.1847A>G	XP_011522131.1:p.Glu616Gly
XM_011523830.1:c.1826A>G	XP_011522132.1:p.Glu609Gly
XR_934021.1:n.2031A>G
XR_934022.1:n.1937A>G
XR_934023.1:n.1958A>G
XM_006721516.3:c.1949A>G	XP_006721579.2:p.Glu650Gly
XM_011523829.2:c.1847A>G	XP_011522131.1:p.Glu616Gly
XM_011523830.2:c.1826A>G	XP_011522132.1:p.Glu609Gly
XM_024450741.1:c.1916A>G	XP_024306509.1:p.Glu639Gly
XR_934021.2:n.1983A>G
XR_934022.2:n.1889A>G
XR_934023.2:n.1910A>G
NM_000018.4:c.1928A>G MANE Select	NP_000009.1:p.Glu643Gly
NM_001033859.3:c.1862A>G	NP_001029031.1:p.Glu621Gly
NM_001270447.2:c.1997A>G	NP_001257376.1:p.Glu666Gly
NM_001270448.2:c.1700A>G	NP_001257377.1:p.Glu567Gly