Canonical Allele Identifier: CA397724459

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126522T>G (hg19) ; chr17:g.7223203T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223203T>G , CM000679.2:g.7223203T>G	GRCh38
NC_000017.10:g.7126522T>G , CM000679.1:g.7126522T>G	GRCh37
NC_000017.9:g.7067246T>G	NCBI36
NG_007975.1:g.8370T>G
NG_008391.2:g.1848A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1148T>G MANE Select	ENSP00000349297.5:p.Leu383Arg
ENST00000322910.9:c.*1103T>G	ENSP00000325395.5:n.*1103T>G
ENST00000350303.9:c.1082T>G	ENSP00000344152.5:p.Leu361Arg
ENST00000356839.9:c.1148T>G	ENSP00000349297.5:p.Leu383Arg
ENST00000542255.6:c.6T>G
ENST00000543245.6:c.1217T>G	ENSP00000438689.2:p.Leu406Arg
ENST00000578579.2:n.97T>G
ENST00000578824.5:n.564T>G
ENST00000579425.5:n.172T>G
ENST00000582379.1:n.799T>G
ENST00000583858.5:c.177T>G
ENST00000585203.6:n.356T>G
NM_000018.3:c.1148T>G	NP_000009.1:p.Leu383Arg
NM_001033859.2:c.1082T>G	NP_001029031.1:p.Leu361Arg
NM_001270447.1:c.1217T>G	NP_001257376.1:p.Leu406Arg
NM_001270448.1:c.920T>G	NP_001257377.1:p.Leu307Arg
XM_006721516.2:c.1148T>G	XP_006721579.2:p.Leu383Arg
XM_011523829.1:c.1148T>G	XP_011522131.1:p.Leu383Arg
XM_011523830.1:c.1148T>G	XP_011522132.1:p.Leu383Arg
XR_934021.1:n.1255T>G
XR_934022.1:n.1255T>G
XR_934023.1:n.1255T>G
XM_006721516.3:c.1148T>G	XP_006721579.2:p.Leu383Arg
XM_011523829.2:c.1148T>G	XP_011522131.1:p.Leu383Arg
XM_011523830.2:c.1148T>G	XP_011522132.1:p.Leu383Arg
XM_024450741.1:c.1148T>G	XP_024306509.1:p.Leu383Arg
XR_934021.2:n.1207T>G
XR_934022.2:n.1207T>G
XR_934023.2:n.1207T>G
NM_000018.4:c.1148T>G MANE Select	NP_000009.1:p.Leu383Arg
NM_001033859.3:c.1082T>G	NP_001029031.1:p.Leu361Arg
NM_001270447.2:c.1217T>G	NP_001257376.1:p.Leu406Arg
NM_001270448.2:c.920T>G	NP_001257377.1:p.Leu307Arg