Canonical Allele Identifier: CA397725787

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2860054
• ClinVar RCV Id: RCV003599947
• MyVariant Identifiers: chr17:g.7128029T>G (hg19) ; chr17:g.7224710T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224710T>G , CM000679.2:g.7224710T>G	GRCh38
NC_000017.10:g.7128029T>G , CM000679.1:g.7128029T>G	GRCh37
NC_000017.9:g.7068753T>G	NCBI36
NG_007975.1:g.9877T>G
NG_008391.2:g.341A>C
NG_033038.1:g.14835A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1747T>G MANE Select	ENSP00000349297.5:p.Ser583Ala
ENST00000322910.9:c.*1702T>G	ENSP00000325395.5:n.*1702T>G
ENST00000350303.9:c.1681T>G	ENSP00000344152.5:p.Ser561Ala
ENST00000356839.9:c.1747T>G	ENSP00000349297.5:p.Ser583Ala
ENST00000542255.6:c.537-5T>G
ENST00000543245.6:c.1816T>G	ENSP00000438689.2:p.Ser606Ala
ENST00000578033.1:n.78T>G
ENST00000578319.5:n.328T>G
ENST00000578711.1:n.1206T>G
ENST00000578809.5:n.319T>G
ENST00000579425.5:n.863T>G
ENST00000579546.1:c.482T>G
ENST00000583074.5:n.300-5T>G
ENST00000583848.5:c.113T>G	ENSP00000466487.1:p.Leu38Arg
ENST00000583850.5:n.518T>G
ENST00000583858.5:c.678T>G
ENST00000585203.6:n.938T>G
NM_000018.3:c.1747T>G	NP_000009.1:p.Ser583Ala
NM_001033859.2:c.1681T>G	NP_001029031.1:p.Ser561Ala
NM_001270447.1:c.1816T>G	NP_001257376.1:p.Ser606Ala
NM_001270448.1:c.1519T>G	NP_001257377.1:p.Ser507Ala
XM_006721516.2:c.1679-5T>G	XP_006721579.2:n.1679-5T>G
XM_011523829.1:c.1577-5T>G	XP_011522131.1:n.1577-5T>G
XM_011523830.1:c.1645T>G	XP_011522132.1:p.Ser549Ala
XR_934021.1:n.1850T>G
XR_934022.1:n.1756T>G
XR_934023.1:n.1688-5T>G
XM_006721516.3:c.1679-5T>G	XP_006721579.2:n.1679-5T>G
XM_011523829.2:c.1577-5T>G	XP_011522131.1:n.1577-5T>G
XM_011523830.2:c.1645T>G	XP_011522132.1:p.Ser549Ala
XM_024450741.1:c.1735T>G	XP_024306509.1:p.Ser579Ala
XR_934021.2:n.1802T>G
XR_934022.2:n.1708T>G
XR_934023.2:n.1640-5T>G
NM_000018.4:c.1747T>G MANE Select	NP_000009.1:p.Ser583Ala
NM_001033859.3:c.1681T>G	NP_001029031.1:p.Ser561Ala
NM_001270447.2:c.1816T>G	NP_001257376.1:p.Ser606Ala
NM_001270448.2:c.1519T>G	NP_001257377.1:p.Ser507Ala