Canonical Allele Identifier: CA8338040
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1397628
ClinVar RCV Id: RCV001922378
dbSNP Id: rs113994169
gnomAD v2: 17-7127006-C-G
gnomAD v3: 17-7223687-C-G
gnomAD v4: 17-7223687-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223687C>G , CM000679.2:g.7223687C>G GRCh38
NC_000017.10:g.7127006C>G , CM000679.1:g.7127006C>G GRCh37
NC_000017.9:g.7067730C>G NCBI36
NG_007975.1:g.8854C>G
NG_008391.2:g.1364G>C
NG_033038.1:g.15858G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1226C>G MANE Select ENSP00000349297.5:p.Thr409Arg
ENST00000322910.9:c.*1181C>G ENSP00000325395.5:n.*1181C>G
ENST00000350303.9:c.1160C>G ENSP00000344152.5:p.Thr387Arg
ENST00000356839.9:c.1226C>G ENSP00000349297.5:p.Thr409Arg
ENST00000542255.6:c.84C>G
ENST00000543245.6:c.1295C>G ENSP00000438689.2:p.Thr432Arg
ENST00000578579.2:n.397C>G
ENST00000578711.1:n.183C>G
ENST00000578824.5:n.642C>G
ENST00000579425.5:n.250C>G
ENST00000579546.1:c.63C>G
ENST00000583850.5:n.1C>G
ENST00000583858.5:c.255C>G
ENST00000585203.6:n.434C>G
NM_000018.3:c.1226C>G NP_000009.1:p.Thr409Arg
NM_001033859.2:c.1160C>G NP_001029031.1:p.Thr387Arg
NM_001270447.1:c.1295C>G NP_001257376.1:p.Thr432Arg
NM_001270448.1:c.998C>G NP_001257377.1:p.Thr333Arg
XM_006721516.2:c.1226C>G XP_006721579.2:p.Thr409Arg
XM_011523829.1:c.1226C>G XP_011522131.1:p.Thr409Arg
XM_011523830.1:c.1226C>G XP_011522132.1:p.Thr409Arg
XR_934021.1:n.1333C>G
XR_934022.1:n.1333C>G
XR_934023.1:n.1333C>G
XM_006721516.3:c.1226C>G XP_006721579.2:p.Thr409Arg
XM_011523829.2:c.1226C>G XP_011522131.1:p.Thr409Arg
XM_011523830.2:c.1226C>G XP_011522132.1:p.Thr409Arg
XM_024450741.1:c.1226C>G XP_024306509.1:p.Thr409Arg
XR_934021.2:n.1285C>G
XR_934022.2:n.1285C>G
XR_934023.2:n.1285C>G
NM_000018.4:c.1226C>G MANE Select NP_000009.1:p.Thr409Arg
NM_001033859.3:c.1160C>G NP_001029031.1:p.Thr387Arg
NM_001270447.2:c.1295C>G NP_001257376.1:p.Thr432Arg
NM_001270448.2:c.998C>G NP_001257377.1:p.Thr333Arg