Canonical Allele Identifier: CA497694509

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128278T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224959T>G , CM000679.2:g.7224959T>G	GRCh38
NC_000017.10:g.7128278T>G , CM000679.1:g.7128278T>G	GRCh37
NC_000017.9:g.7069002T>G	NCBI36
NG_007975.1:g.10126T>G
NG_008391.2:g.92A>C
NG_033038.1:g.14586A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1830T>G MANE Select	ENSP00000349297.5:p.Ala610=
ENST00000322910.9:c.*1785T>G	ENSP00000325395.5:n.*1785T>G
ENST00000350303.9:c.1764T>G	ENSP00000344152.5:p.Ala588=
ENST00000356839.9:c.1830T>G	ENSP00000349297.5:p.Ala610=
ENST00000542255.6:c.709T>G
ENST00000543245.6:c.1899T>G	ENSP00000438689.2:p.Ala633=
ENST00000578033.1:n.255T>G
ENST00000578319.5:n.411T>G
ENST00000578711.1:n.1455T>G
ENST00000578809.5:n.402T>G
ENST00000579425.5:n.946T>G
ENST00000579546.1:c.565T>G
ENST00000583848.5:c.196T>G	ENSP00000466487.1:n.196T>G
ENST00000583850.5:n.601T>G
ENST00000583858.5:c.761T>G
NM_000018.3:c.1830T>G	NP_000009.1:p.Ala610=
NM_001033859.2:c.1764T>G	NP_001029031.1:p.Ala588=
NM_001270447.1:c.1899T>G	NP_001257376.1:p.Ala633=
NM_001270448.1:c.1602T>G	NP_001257377.1:p.Ala534=
XM_006721516.2:c.1851T>G	XP_006721579.2:p.Ala617=
XM_011523829.1:c.1749T>G	XP_011522131.1:p.Ala583=
XM_011523830.1:c.1728T>G	XP_011522132.1:p.Ala576=
XR_934021.1:n.1933T>G
XR_934022.1:n.1839T>G
XR_934023.1:n.1860T>G
XM_006721516.3:c.1851T>G	XP_006721579.2:p.Ala617=
XM_011523829.2:c.1749T>G	XP_011522131.1:p.Ala583=
XM_011523830.2:c.1728T>G	XP_011522132.1:p.Ala576=
XM_024450741.1:c.1818T>G	XP_024306509.1:p.Ala606=
XR_934021.2:n.1885T>G
XR_934022.2:n.1791T>G
XR_934023.2:n.1812T>G
NM_000018.4:c.1830T>G MANE Select	NP_000009.1:p.Ala610=
NM_001033859.3:c.1764T>G	NP_001029031.1:p.Ala588=
NM_001270447.2:c.1899T>G	NP_001257376.1:p.Ala633=
NM_001270448.2:c.1602T>G	NP_001257377.1:p.Ala534=