Canonical Allele Identifier: CA397724458

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1148T>A MANE Select	ENSP00000349297.5:p.Leu383Gln
ENST00000322910.9:c.*1103T>A	ENSP00000325395.5:n.*1103T>A
ENST00000350303.9:c.1082T>A	ENSP00000344152.5:p.Leu361Gln
ENST00000356839.9:c.1148T>A	ENSP00000349297.5:p.Leu383Gln
ENST00000542255.6:c.6T>A
ENST00000543245.6:c.1217T>A	ENSP00000438689.2:p.Leu406Gln
ENST00000578579.2:n.97T>A
ENST00000578824.5:n.564T>A
ENST00000579425.5:n.172T>A
ENST00000582379.1:n.799T>A
ENST00000583858.5:c.177T>A
ENST00000585203.6:n.356T>A
NM_000018.3:c.1148T>A	NP_000009.1:p.Leu383Gln
NM_001033859.2:c.1082T>A	NP_001029031.1:p.Leu361Gln
NM_001270447.1:c.1217T>A	NP_001257376.1:p.Leu406Gln
NM_001270448.1:c.920T>A	NP_001257377.1:p.Leu307Gln
XM_006721516.2:c.1148T>A	XP_006721579.2:p.Leu383Gln
XM_011523829.1:c.1148T>A	XP_011522131.1:p.Leu383Gln
XM_011523830.1:c.1148T>A	XP_011522132.1:p.Leu383Gln
XR_934021.1:n.1255T>A
XR_934022.1:n.1255T>A
XR_934023.1:n.1255T>A
XM_006721516.3:c.1148T>A	XP_006721579.2:p.Leu383Gln
XM_011523829.2:c.1148T>A	XP_011522131.1:p.Leu383Gln
XM_011523830.2:c.1148T>A	XP_011522132.1:p.Leu383Gln
XM_024450741.1:c.1148T>A	XP_024306509.1:p.Leu383Gln
XR_934021.2:n.1207T>A
XR_934022.2:n.1207T>A
XR_934023.2:n.1207T>A
NM_000018.4:c.1148T>A MANE Select	NP_000009.1:p.Leu383Gln
NM_001033859.3:c.1082T>A	NP_001029031.1:p.Leu361Gln
NM_001270447.2:c.1217T>A	NP_001257376.1:p.Leu406Gln
NM_001270448.2:c.920T>A	NP_001257377.1:p.Leu307Gln