Canonical Allele Identifier: CA397725195
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs775797560
gnomAD v4: 17-7224182-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224182C>G , CM000679.2:g.7224182C>G GRCh38
NC_000017.10:g.7127501C>G , CM000679.1:g.7127501C>G GRCh37
NC_000017.9:g.7068225C>G NCBI36
NG_007975.1:g.9349C>G
NG_008391.2:g.869G>C
NG_033038.1:g.15363G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1471C>G MANE Select ENSP00000349297.5:p.Leu491Val
ENST00000322910.9:c.*1426C>G ENSP00000325395.5:n.*1426C>G
ENST00000350303.9:c.1405C>G ENSP00000344152.5:p.Leu469Val
ENST00000356839.9:c.1471C>G ENSP00000349297.5:p.Leu491Val
ENST00000542255.6:c.329C>G
ENST00000543245.6:c.1540C>G ENSP00000438689.2:p.Leu514Val
ENST00000578711.1:n.678C>G
ENST00000579391.1:n.79C>G
ENST00000579425.5:n.587C>G
ENST00000579546.1:c.271+113C>G
ENST00000579894.5:n.258C>G
ENST00000583074.5:n.153+113C>G
ENST00000583850.5:n.246C>G
ENST00000583858.5:c.463+113C>G
ENST00000585203.6:n.662C>G
NM_000018.3:c.1471C>G NP_000009.1:p.Leu491Val
NM_001033859.2:c.1405C>G NP_001029031.1:p.Leu469Val
NM_001270447.1:c.1540C>G NP_001257376.1:p.Leu514Val
NM_001270448.1:c.1243C>G NP_001257377.1:p.Leu415Val
XM_006721516.2:c.1471C>G XP_006721579.2:p.Leu491Val
XM_011523829.1:c.1434+113C>G XP_011522131.1:n.1434+113C>G
XM_011523830.1:c.1434+113C>G XP_011522132.1:n.1434+113C>G
XR_934021.1:n.1578C>G
XR_934022.1:n.1541+113C>G
XR_934023.1:n.1541+113C>G
XM_006721516.3:c.1471C>G XP_006721579.2:p.Leu491Val
XM_011523829.2:c.1434+113C>G XP_011522131.1:n.1434+113C>G
XM_011523830.2:c.1434+113C>G XP_011522132.1:n.1434+113C>G
XM_024450741.1:c.1434+113C>G XP_024306509.1:n.1434+113C>G
XR_934021.2:n.1530C>G
XR_934022.2:n.1493+113C>G
XR_934023.2:n.1493+113C>G
NM_000018.4:c.1471C>G MANE Select NP_000009.1:p.Leu491Val
NM_001033859.3:c.1405C>G NP_001029031.1:p.Leu469Val
NM_001270447.2:c.1540C>G NP_001257376.1:p.Leu514Val
NM_001270448.2:c.1243C>G NP_001257377.1:p.Leu415Val