Canonical Allele Identifier: CA397725247
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs753377608
gnomAD v3: 17-7224204-C-G
gnomAD v4: 17-7224204-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224204C>G , CM000679.2:g.7224204C>G GRCh38
NC_000017.10:g.7127523C>G , CM000679.1:g.7127523C>G GRCh37
NC_000017.9:g.7068247C>G NCBI36
NG_007975.1:g.9371C>G
NG_008391.2:g.847G>C
NG_033038.1:g.15341G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1493C>G MANE Select ENSP00000349297.5:p.Ala498Gly
ENST00000322910.9:c.*1448C>G ENSP00000325395.5:n.*1448C>G
ENST00000350303.9:c.1427C>G ENSP00000344152.5:p.Ala476Gly
ENST00000356839.9:c.1493C>G ENSP00000349297.5:p.Ala498Gly
ENST00000542255.6:c.351C>G
ENST00000543245.6:c.1562C>G ENSP00000438689.2:p.Ala521Gly
ENST00000578711.1:n.700C>G
ENST00000579391.1:n.101C>G
ENST00000579425.5:n.609C>G
ENST00000579546.1:c.272-117C>G
ENST00000579894.5:n.280C>G
ENST00000583074.5:n.154-117C>G
ENST00000583850.5:n.268C>G
ENST00000583858.5:c.464-117C>G
ENST00000585203.6:n.684C>G
NM_000018.3:c.1493C>G NP_000009.1:p.Ala498Gly
NM_001033859.2:c.1427C>G NP_001029031.1:p.Ala476Gly
NM_001270447.1:c.1562C>G NP_001257376.1:p.Ala521Gly
NM_001270448.1:c.1265C>G NP_001257377.1:p.Ala422Gly
XM_006721516.2:c.1493C>G XP_006721579.2:p.Ala498Gly
XM_011523829.1:c.1435-117C>G XP_011522131.1:n.1435-117C>G
XM_011523830.1:c.1435-117C>G XP_011522132.1:n.1435-117C>G
XR_934021.1:n.1600C>G
XR_934022.1:n.1542-117C>G
XR_934023.1:n.1542-117C>G
XM_006721516.3:c.1493C>G XP_006721579.2:p.Ala498Gly
XM_011523829.2:c.1435-117C>G XP_011522131.1:n.1435-117C>G
XM_011523830.2:c.1435-117C>G XP_011522132.1:n.1435-117C>G
XM_024450741.1:c.1435-117C>G XP_024306509.1:n.1435-117C>G
XR_934021.2:n.1552C>G
XR_934022.2:n.1494-117C>G
XR_934023.2:n.1494-117C>G
NM_000018.4:c.1493C>G MANE Select NP_000009.1:p.Ala498Gly
NM_001033859.3:c.1427C>G NP_001029031.1:p.Ala476Gly
NM_001270447.2:c.1562C>G NP_001257376.1:p.Ala521Gly
NM_001270448.2:c.1265C>G NP_001257377.1:p.Ala422Gly