Canonical Allele Identifier: CA497620216
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126067G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222748G>A , CM000679.2:g.7222748G>A GRCh38
NC_000017.10:g.7126067G>A , CM000679.1:g.7126067G>A GRCh37
NC_000017.9:g.7066791G>A NCBI36
NG_007975.1:g.7915G>A
NG_008391.2:g.2303C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.960G>A MANE Select ENSP00000349297.5:p.Glu320=
ENST00000322910.9:c.*915G>A ENSP00000325395.5:n.*915G>A
ENST00000350303.9:c.894G>A ENSP00000344152.5:p.Glu298=
ENST00000356839.9:c.960G>A ENSP00000349297.5:p.Glu320=
ENST00000543245.6:c.1029G>A ENSP00000438689.2:p.Glu343=
ENST00000578824.5:n.109G>A
ENST00000581378.5:c.678G>A
ENST00000582379.1:n.344G>A
NM_000018.3:c.960G>A NP_000009.1:p.Glu320=
NM_001033859.2:c.894G>A NP_001029031.1:p.Glu298=
NM_001270447.1:c.1029G>A NP_001257376.1:p.Glu343=
NM_001270448.1:c.732G>A NP_001257377.1:p.Glu244=
XM_006721516.2:c.960G>A XP_006721579.2:p.Glu320=
XM_011523829.1:c.960G>A XP_011522131.1:p.Glu320=
XM_011523830.1:c.960G>A XP_011522132.1:p.Glu320=
XR_934021.1:n.1067G>A
XR_934022.1:n.1067G>A
XR_934023.1:n.1067G>A
XM_006721516.3:c.960G>A XP_006721579.2:p.Glu320=
XM_011523829.2:c.960G>A XP_011522131.1:p.Glu320=
XM_011523830.2:c.960G>A XP_011522132.1:p.Glu320=
XM_024450741.1:c.960G>A XP_024306509.1:p.Glu320=
XR_934021.2:n.1019G>A
XR_934022.2:n.1019G>A
XR_934023.2:n.1019G>A
NM_000018.4:c.960G>A MANE Select NP_000009.1:p.Glu320=
NM_001033859.3:c.894G>A NP_001029031.1:p.Glu298=
NM_001270447.2:c.1029G>A NP_001257376.1:p.Glu343=
NM_001270448.2:c.732G>A NP_001257377.1:p.Glu244=