Canonical Allele Identifier: CA397725968

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128199T>G (hg19) ; chr17:g.7224880T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224880T>G , CM000679.2:g.7224880T>G	GRCh38
NC_000017.10:g.7128199T>G , CM000679.1:g.7128199T>G	GRCh37
NC_000017.9:g.7068923T>G	NCBI36
NG_007975.1:g.10047T>G
NG_008391.2:g.171A>C
NG_033038.1:g.14665A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1823T>G MANE Select	ENSP00000349297.5:p.Ile608Ser
ENST00000322910.9:c.*1778T>G	ENSP00000325395.5:n.*1778T>G
ENST00000350303.9:c.1757T>G	ENSP00000344152.5:p.Ile586Ser
ENST00000356839.9:c.1823T>G	ENSP00000349297.5:p.Ile608Ser
ENST00000542255.6:c.702T>G
ENST00000543245.6:c.1892T>G	ENSP00000438689.2:p.Ile631Ser
ENST00000578033.1:n.248T>G
ENST00000578319.5:n.404T>G
ENST00000578711.1:n.1376T>G
ENST00000578809.5:n.395T>G
ENST00000579425.5:n.939T>G
ENST00000579546.1:c.558T>G
ENST00000583848.5:c.189T>G	ENSP00000466487.1:n.189T>G
ENST00000583850.5:n.594T>G
ENST00000583858.5:c.754T>G
NM_000018.3:c.1823T>G	NP_000009.1:p.Ile608Ser
NM_001033859.2:c.1757T>G	NP_001029031.1:p.Ile586Ser
NM_001270447.1:c.1892T>G	NP_001257376.1:p.Ile631Ser
NM_001270448.1:c.1595T>G	NP_001257377.1:p.Ile532Ser
XM_006721516.2:c.1844T>G	XP_006721579.2:p.Ile615Ser
XM_011523829.1:c.1742T>G	XP_011522131.1:p.Ile581Ser
XM_011523830.1:c.1721T>G	XP_011522132.1:p.Ile574Ser
XR_934021.1:n.1926T>G
XR_934022.1:n.1832T>G
XR_934023.1:n.1853T>G
XM_006721516.3:c.1844T>G	XP_006721579.2:p.Ile615Ser
XM_011523829.2:c.1742T>G	XP_011522131.1:p.Ile581Ser
XM_011523830.2:c.1721T>G	XP_011522132.1:p.Ile574Ser
XM_024450741.1:c.1811T>G	XP_024306509.1:p.Ile604Ser
XR_934021.2:n.1878T>G
XR_934022.2:n.1784T>G
XR_934023.2:n.1805T>G
NM_000018.4:c.1823T>G MANE Select	NP_000009.1:p.Ile608Ser
NM_001033859.3:c.1757T>G	NP_001029031.1:p.Ile586Ser
NM_001270447.2:c.1892T>G	NP_001257376.1:p.Ile631Ser
NM_001270448.2:c.1595T>G	NP_001257377.1:p.Ile532Ser