Canonical Allele Identifier: CA397725969

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128200C>G (hg19) ; chr17:g.7224881C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224881C>G , CM000679.2:g.7224881C>G	GRCh38
NC_000017.10:g.7128200C>G , CM000679.1:g.7128200C>G	GRCh37
NC_000017.9:g.7068924C>G	NCBI36
NG_007975.1:g.10048C>G
NG_008391.2:g.170G>C
NG_033038.1:g.14664G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1824C>G MANE Select	ENSP00000349297.5:p.Ile608Met
ENST00000322910.9:c.*1779C>G	ENSP00000325395.5:n.*1779C>G
ENST00000350303.9:c.1758C>G	ENSP00000344152.5:p.Ile586Met
ENST00000356839.9:c.1824C>G	ENSP00000349297.5:p.Ile608Met
ENST00000542255.6:c.703C>G
ENST00000543245.6:c.1893C>G	ENSP00000438689.2:p.Ile631Met
ENST00000578033.1:n.249C>G
ENST00000578319.5:n.405C>G
ENST00000578711.1:n.1377C>G
ENST00000578809.5:n.396C>G
ENST00000579425.5:n.940C>G
ENST00000579546.1:c.559C>G
ENST00000583848.5:c.190C>G	ENSP00000466487.1:n.190C>G
ENST00000583850.5:n.595C>G
ENST00000583858.5:c.755C>G
NM_000018.3:c.1824C>G	NP_000009.1:p.Ile608Met
NM_001033859.2:c.1758C>G	NP_001029031.1:p.Ile586Met
NM_001270447.1:c.1893C>G	NP_001257376.1:p.Ile631Met
NM_001270448.1:c.1596C>G	NP_001257377.1:p.Ile532Met
XM_006721516.2:c.1845C>G	XP_006721579.2:p.Ile615Met
XM_011523829.1:c.1743C>G	XP_011522131.1:p.Ile581Met
XM_011523830.1:c.1722C>G	XP_011522132.1:p.Ile574Met
XR_934021.1:n.1927C>G
XR_934022.1:n.1833C>G
XR_934023.1:n.1854C>G
XM_006721516.3:c.1845C>G	XP_006721579.2:p.Ile615Met
XM_011523829.2:c.1743C>G	XP_011522131.1:p.Ile581Met
XM_011523830.2:c.1722C>G	XP_011522132.1:p.Ile574Met
XM_024450741.1:c.1812C>G	XP_024306509.1:p.Ile604Met
XR_934021.2:n.1879C>G
XR_934022.2:n.1785C>G
XR_934023.2:n.1806C>G
NM_000018.4:c.1824C>G MANE Select	NP_000009.1:p.Ile608Met
NM_001033859.3:c.1758C>G	NP_001029031.1:p.Ile586Met
NM_001270447.2:c.1893C>G	NP_001257376.1:p.Ile631Met
NM_001270448.2:c.1596C>G	NP_001257377.1:p.Ile532Met