Canonical Allele Identifier: CA8338201
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1394817
ClinVar RCV Id: RCV001884896
dbSNP Id: rs773842959
gnomAD v3: 17-7224544-G-A
gnomAD v4: 17-7224544-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224544G>A , CM000679.2:g.7224544G>A GRCh38
NC_000017.10:g.7127863G>A , CM000679.1:g.7127863G>A GRCh37
NC_000017.9:g.7068587G>A NCBI36
NG_007975.1:g.9711G>A
NG_008391.2:g.507C>T
NG_033038.1:g.15001C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1670G>A MANE Select ENSP00000349297.5:p.Gly557Glu
ENST00000322910.9:c.*1625G>A ENSP00000325395.5:n.*1625G>A
ENST00000350303.9:c.1604G>A ENSP00000344152.5:p.Gly535Glu
ENST00000356839.9:c.1670G>A ENSP00000349297.5:p.Gly557Glu
ENST00000542255.6:c.528G>A
ENST00000543245.6:c.1739G>A ENSP00000438689.2:p.Gly580Glu
ENST00000578319.5:n.251G>A
ENST00000578711.1:n.1040G>A
ENST00000578809.5:n.242G>A
ENST00000579391.1:n.274G>A
ENST00000579425.5:n.786G>A
ENST00000579546.1:c.405G>A
ENST00000582450.1:n.178G>A
ENST00000583074.5:n.291G>A
ENST00000583848.5:c.56G>A ENSP00000466487.1:p.Gly19Glu
ENST00000583850.5:n.441G>A
ENST00000583858.5:c.601G>A
ENST00000585203.6:n.861G>A
NM_000018.3:c.1670G>A NP_000009.1:p.Gly557Glu
NM_001033859.2:c.1604G>A NP_001029031.1:p.Gly535Glu
NM_001270447.1:c.1739G>A NP_001257376.1:p.Gly580Glu
NM_001270448.1:c.1442G>A NP_001257377.1:p.Gly481Glu
XM_006721516.2:c.1670G>A XP_006721579.2:p.Gly557Glu
XM_011523829.1:c.1568G>A XP_011522131.1:p.Gly523Glu
XM_011523830.1:c.1568G>A XP_011522132.1:p.Gly523Glu
XR_934021.1:n.1773G>A
XR_934022.1:n.1679G>A
XR_934023.1:n.1679G>A
XM_006721516.3:c.1670G>A XP_006721579.2:p.Gly557Glu
XM_011523829.2:c.1568G>A XP_011522131.1:p.Gly523Glu
XM_011523830.2:c.1568G>A XP_011522132.1:p.Gly523Glu
XM_024450741.1:c.1658G>A XP_024306509.1:p.Gly553Glu
XR_934021.2:n.1725G>A
XR_934022.2:n.1631G>A
XR_934023.2:n.1631G>A
NM_000018.4:c.1670G>A MANE Select NP_000009.1:p.Gly557Glu
NM_001033859.3:c.1604G>A NP_001029031.1:p.Gly535Glu
NM_001270447.2:c.1739G>A NP_001257376.1:p.Gly580Glu
NM_001270448.2:c.1442G>A NP_001257377.1:p.Gly481Glu