Canonical Allele Identifier: CA8338123
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 474888
ClinVar RCV Id: RCV000554101
dbSNP Id: rs759775666
gnomAD v2: 17-7127498-G-C
gnomAD v3: 17-7224179-G-C
gnomAD v4: 17-7224179-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224179G>C , CM000679.2:g.7224179G>C GRCh38
NC_000017.10:g.7127498G>C , CM000679.1:g.7127498G>C GRCh37
NC_000017.9:g.7068222G>C NCBI36
NG_007975.1:g.9346G>C
NG_008391.2:g.872C>G
NG_033038.1:g.15366C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1468G>C MANE Select ENSP00000349297.5:p.Ala490Pro
ENST00000322910.9:c.*1423G>C ENSP00000325395.5:n.*1423G>C
ENST00000350303.9:c.1402G>C ENSP00000344152.5:p.Ala468Pro
ENST00000356839.9:c.1468G>C ENSP00000349297.5:p.Ala490Pro
ENST00000542255.6:c.326G>C
ENST00000543245.6:c.1537G>C ENSP00000438689.2:p.Ala513Pro
ENST00000578711.1:n.675G>C
ENST00000579391.1:n.76G>C
ENST00000579425.5:n.584G>C
ENST00000579546.1:c.271+110G>C
ENST00000579894.5:n.255G>C
ENST00000583074.5:n.153+110G>C
ENST00000583850.5:n.243G>C
ENST00000583858.5:c.463+110G>C
ENST00000585203.6:n.659G>C
NM_000018.3:c.1468G>C NP_000009.1:p.Ala490Pro
NM_001033859.2:c.1402G>C NP_001029031.1:p.Ala468Pro
NM_001270447.1:c.1537G>C NP_001257376.1:p.Ala513Pro
NM_001270448.1:c.1240G>C NP_001257377.1:p.Ala414Pro
XM_006721516.2:c.1468G>C XP_006721579.2:p.Ala490Pro
XM_011523829.1:c.1434+110G>C XP_011522131.1:n.1434+110G>C
XM_011523830.1:c.1434+110G>C XP_011522132.1:n.1434+110G>C
XR_934021.1:n.1575G>C
XR_934022.1:n.1541+110G>C
XR_934023.1:n.1541+110G>C
XM_006721516.3:c.1468G>C XP_006721579.2:p.Ala490Pro
XM_011523829.2:c.1434+110G>C XP_011522131.1:n.1434+110G>C
XM_011523830.2:c.1434+110G>C XP_011522132.1:n.1434+110G>C
XM_024450741.1:c.1434+110G>C XP_024306509.1:n.1434+110G>C
XR_934021.2:n.1527G>C
XR_934022.2:n.1493+110G>C
XR_934023.2:n.1493+110G>C
NM_000018.4:c.1468G>C MANE Select NP_000009.1:p.Ala490Pro
NM_001033859.3:c.1402G>C NP_001029031.1:p.Ala468Pro
NM_001270447.2:c.1537G>C NP_001257376.1:p.Ala513Pro
NM_001270448.2:c.1240G>C NP_001257377.1:p.Ala414Pro