Canonical Allele Identifier: CA397723336
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932794
dbSNP Id: rs2071251302

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221952G>A , CM000679.2:g.7221952G>A GRCh38
NC_000017.10:g.7125271G>A , CM000679.1:g.7125271G>A GRCh37
NC_000017.9:g.7065995G>A NCBI36
NG_007975.1:g.7119G>A
NG_008391.2:g.3099C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.623G>A MANE Select ENSP00000349297.5:p.Gly208Glu
ENST00000322910.9:c.*578G>A ENSP00000325395.5:n.*578G>A
ENST00000350303.9:c.557G>A ENSP00000344152.5:p.Gly186Glu
ENST00000356839.9:c.623G>A ENSP00000349297.5:p.Gly208Glu
ENST00000543245.6:c.692G>A ENSP00000438689.2:p.Gly231Glu
ENST00000577191.5:n.700G>A
ENST00000577857.5:n.439G>A
ENST00000579286.5:n.804G>A
ENST00000579886.2:c.461G>A ENSP00000463246.1:p.Gly154Glu
ENST00000580365.1:n.354G>A
ENST00000581378.5:c.341G>A
ENST00000581562.5:n.525G>A
ENST00000582379.1:n.7G>A
ENST00000583312.5:c.638G>A ENSP00000467920.1:p.Gly213Glu
ENST00000583760.1:n.405G>A
NM_000018.3:c.623G>A NP_000009.1:p.Gly208Glu
NM_001033859.2:c.557G>A NP_001029031.1:p.Gly186Glu
NM_001270447.1:c.692G>A NP_001257376.1:p.Gly231Glu
NM_001270448.1:c.395G>A NP_001257377.1:p.Gly132Glu
XM_006721516.2:c.623G>A XP_006721579.2:p.Gly208Glu
XM_011523829.1:c.623G>A XP_011522131.1:p.Gly208Glu
XM_011523830.1:c.623G>A XP_011522132.1:p.Gly208Glu
XR_934021.1:n.730G>A
XR_934022.1:n.730G>A
XR_934023.1:n.730G>A
XM_006721516.3:c.623G>A XP_006721579.2:p.Gly208Glu
XM_011523829.2:c.623G>A XP_011522131.1:p.Gly208Glu
XM_011523830.2:c.623G>A XP_011522132.1:p.Gly208Glu
XM_024450741.1:c.623G>A XP_024306509.1:p.Gly208Glu
XR_934021.2:n.682G>A
XR_934022.2:n.682G>A
XR_934023.2:n.682G>A
NM_000018.4:c.623G>A MANE Select NP_000009.1:p.Gly208Glu
NM_001033859.3:c.557G>A NP_001029031.1:p.Gly186Glu
NM_001270447.2:c.692G>A NP_001257376.1:p.Gly231Glu
NM_001270448.2:c.395G>A NP_001257377.1:p.Gly132Glu