Canonical Allele Identifier: CA497694097

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127313A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223994A>G , CM000679.2:g.7223994A>G	GRCh38
NC_000017.10:g.7127313A>G , CM000679.1:g.7127313A>G	GRCh37
NC_000017.9:g.7068037A>G	NCBI36
NG_007975.1:g.9161A>G
NG_008391.2:g.1057T>C
NG_033038.1:g.15551T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1359A>G MANE Select	ENSP00000349297.5:p.Arg453=
ENST00000322910.9:c.*1314A>G	ENSP00000325395.5:n.*1314A>G
ENST00000350303.9:c.1293A>G	ENSP00000344152.5:p.Arg431=
ENST00000356839.9:c.1359A>G	ENSP00000349297.5:p.Arg453=
ENST00000542255.6:c.217A>G
ENST00000543245.6:c.1428A>G	ENSP00000438689.2:p.Arg476=
ENST00000578711.1:n.490A>G
ENST00000579425.5:n.475A>G
ENST00000579546.1:c.196A>G
ENST00000579894.5:n.70A>G
ENST00000583074.5:n.78A>G
ENST00000583850.5:n.134A>G
ENST00000583858.5:c.388A>G
ENST00000585203.6:n.550A>G
NM_000018.3:c.1359A>G	NP_000009.1:p.Arg453=
NM_001033859.2:c.1293A>G	NP_001029031.1:p.Arg431=
NM_001270447.1:c.1428A>G	NP_001257376.1:p.Arg476=
NM_001270448.1:c.1131A>G	NP_001257377.1:p.Arg377=
XM_006721516.2:c.1359A>G	XP_006721579.2:p.Arg453=
XM_011523829.1:c.1359A>G	XP_011522131.1:p.Arg453=
XM_011523830.1:c.1359A>G	XP_011522132.1:p.Arg453=
XR_934021.1:n.1466A>G
XR_934022.1:n.1466A>G
XR_934023.1:n.1466A>G
XM_006721516.3:c.1359A>G	XP_006721579.2:p.Arg453=
XM_011523829.2:c.1359A>G	XP_011522131.1:p.Arg453=
XM_011523830.2:c.1359A>G	XP_011522132.1:p.Arg453=
XM_024450741.1:c.1359A>G	XP_024306509.1:p.Arg453=
XR_934021.2:n.1418A>G
XR_934022.2:n.1418A>G
XR_934023.2:n.1418A>G
NM_000018.4:c.1359A>G MANE Select	NP_000009.1:p.Arg453=
NM_001033859.3:c.1293A>G	NP_001029031.1:p.Arg431=
NM_001270447.2:c.1428A>G	NP_001257376.1:p.Arg476=
NM_001270448.2:c.1131A>G	NP_001257377.1:p.Arg377=