Canonical Allele Identifier: CA8338192

Gene: ACADVL

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224487G>A , CM000679.2:g.7224487G>A	GRCh38
NC_000017.10:g.7127806G>A , CM000679.1:g.7127806G>A	GRCh37
NC_000017.9:g.7068530G>A	NCBI36
NG_007975.1:g.9654G>A
NG_008391.2:g.564C>T
NG_033038.1:g.15058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1613G>A MANE Select	ENSP00000349297.5:p.Arg538Gln
ENST00000322910.9:c.*1568G>A	ENSP00000325395.5:n.*1568G>A
ENST00000350303.9:c.1547G>A	ENSP00000344152.5:p.Arg516Gln
ENST00000356839.9:c.1613G>A	ENSP00000349297.5:p.Arg538Gln
ENST00000542255.6:c.471G>A
ENST00000543245.6:c.1682G>A	ENSP00000438689.2:p.Arg561Gln
ENST00000578319.5:n.194G>A
ENST00000578711.1:n.983G>A
ENST00000578809.5:n.185G>A
ENST00000579391.1:n.217G>A
ENST00000579425.5:n.729G>A
ENST00000579546.1:c.348G>A
ENST00000579894.5:n.400G>A
ENST00000582450.1:n.121G>A
ENST00000583074.5:n.234G>A
ENST00000583850.5:n.384G>A
ENST00000583858.5:c.544G>A
ENST00000585203.6:n.804G>A
NM_000018.3:c.1613G>A	NP_000009.1:p.Arg538Gln
NM_001033859.2:c.1547G>A	NP_001029031.1:p.Arg516Gln
NM_001270447.1:c.1682G>A	NP_001257376.1:p.Arg561Gln
NM_001270448.1:c.1385G>A	NP_001257377.1:p.Arg462Gln
XM_006721516.2:c.1613G>A	XP_006721579.2:p.Arg538Gln
XM_011523829.1:c.1511G>A	XP_011522131.1:p.Arg504Gln
XM_011523830.1:c.1511G>A	XP_011522132.1:p.Arg504Gln
XR_934021.1:n.1716G>A
XR_934022.1:n.1622G>A
XR_934023.1:n.1622G>A
XM_006721516.3:c.1613G>A	XP_006721579.2:p.Arg538Gln
XM_011523829.2:c.1511G>A	XP_011522131.1:p.Arg504Gln
XM_011523830.2:c.1511G>A	XP_011522132.1:p.Arg504Gln
XM_024450741.1:c.1601G>A	XP_024306509.1:p.Arg534Gln
XR_934021.2:n.1668G>A
XR_934022.2:n.1574G>A
XR_934023.2:n.1574G>A
NM_000018.4:c.1613G>A MANE Select	NP_000009.1:p.Arg538Gln
NM_001033859.3:c.1547G>A	NP_001029031.1:p.Arg516Gln
NM_001270447.2:c.1682G>A	NP_001257376.1:p.Arg561Gln
NM_001270448.2:c.1385G>A	NP_001257377.1:p.Arg462Gln