Canonical Allele Identifier: CA397725251
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs764943140
gnomAD v3: 17-7224207-G-A
gnomAD v4: 17-7224207-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224207G>A , CM000679.2:g.7224207G>A GRCh38
NC_000017.10:g.7127526G>A , CM000679.1:g.7127526G>A GRCh37
NC_000017.9:g.7068250G>A NCBI36
NG_007975.1:g.9374G>A
NG_008391.2:g.844C>T
NG_033038.1:g.15338C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1496G>A MANE Select ENSP00000349297.5:p.Gly499Asp
ENST00000322910.9:c.*1451G>A ENSP00000325395.5:n.*1451G>A
ENST00000350303.9:c.1430G>A ENSP00000344152.5:p.Gly477Asp
ENST00000356839.9:c.1496G>A ENSP00000349297.5:p.Gly499Asp
ENST00000542255.6:c.354G>A
ENST00000543245.6:c.1565G>A ENSP00000438689.2:p.Gly522Asp
ENST00000578711.1:n.703G>A
ENST00000579391.1:n.104G>A
ENST00000579425.5:n.612G>A
ENST00000579546.1:c.272-114G>A
ENST00000579894.5:n.283G>A
ENST00000583074.5:n.154-114G>A
ENST00000583850.5:n.271G>A
ENST00000583858.5:c.464-114G>A
ENST00000585203.6:n.687G>A
NM_000018.3:c.1496G>A NP_000009.1:p.Gly499Asp
NM_001033859.2:c.1430G>A NP_001029031.1:p.Gly477Asp
NM_001270447.1:c.1565G>A NP_001257376.1:p.Gly522Asp
NM_001270448.1:c.1268G>A NP_001257377.1:p.Gly423Asp
XM_006721516.2:c.1496G>A XP_006721579.2:p.Gly499Asp
XM_011523829.1:c.1435-114G>A XP_011522131.1:n.1435-114G>A
XM_011523830.1:c.1435-114G>A XP_011522132.1:n.1435-114G>A
XR_934021.1:n.1603G>A
XR_934022.1:n.1542-114G>A
XR_934023.1:n.1542-114G>A
XM_006721516.3:c.1496G>A XP_006721579.2:p.Gly499Asp
XM_011523829.2:c.1435-114G>A XP_011522131.1:n.1435-114G>A
XM_011523830.2:c.1435-114G>A XP_011522132.1:n.1435-114G>A
XM_024450741.1:c.1435-114G>A XP_024306509.1:n.1435-114G>A
XR_934021.2:n.1555G>A
XR_934022.2:n.1494-114G>A
XR_934023.2:n.1494-114G>A
NM_000018.4:c.1496G>A MANE Select NP_000009.1:p.Gly499Asp
NM_001033859.3:c.1430G>A NP_001029031.1:p.Gly477Asp
NM_001270447.2:c.1565G>A NP_001257376.1:p.Gly522Asp
NM_001270448.2:c.1268G>A NP_001257377.1:p.Gly423Asp