Canonical Allele Identifier: CA251907
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1632
ClinVar RCV Id: RCV000001699
dbSNP Id: rs118204017

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224007T>C , CM000679.2:g.7224007T>C GRCh38
NC_000017.10:g.7127326T>C , CM000679.1:g.7127326T>C GRCh37
NC_000017.9:g.7068050T>C NCBI36
NG_007975.1:g.9174T>C
NG_008391.2:g.1044A>G
NG_033038.1:g.15538A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1372T>C MANE Select ENSP00000349297.5:p.Phe458Leu
ENST00000322910.9:c.*1327T>C ENSP00000325395.5:p.=
ENST00000350303.9:c.1306T>C ENSP00000344152.5:p.Phe436Leu
ENST00000356839.9:c.1372T>C ENSP00000349297.5:p.Phe458Leu
ENST00000542255.6:n.230T>C
ENST00000543245.6:c.1441T>C ENSP00000438689.2:p.Phe481Leu
ENST00000578711.1:n.503T>C
ENST00000579425.5:n.488T>C
ENST00000579546.1:n.209T>C
ENST00000579894.5:n.83T>C
ENST00000583074.5:n.91T>C
ENST00000583850.5:n.147T>C
ENST00000583858.5:n.401T>C
ENST00000585203.6:n.563T>C
NM_000018.3:c.1372T>C NP_000009.1:p.Phe458Leu
NM_001033859.2:c.1306T>C NP_001029031.1:p.Phe436Leu
NM_001270447.1:c.1441T>C NP_001257376.1:p.Phe481Leu
NM_001270448.1:c.1144T>C NP_001257377.1:p.Phe382Leu
XM_006721516.2:c.1372T>C XP_006721579.2:p.Phe458Leu
XM_011523829.1:c.1372T>C XP_011522131.1:p.Phe458Leu
XM_011523830.1:c.1372T>C XP_011522132.1:p.Phe458Leu
XR_934021.1:n.1479T>C
XR_934022.1:n.1479T>C
XR_934023.1:n.1479T>C
XM_006721516.3:c.1372T>C XP_006721579.2:p.Phe458Leu
XM_011523829.2:c.1372T>C XP_011522131.1:p.Phe458Leu
XM_011523830.2:c.1372T>C XP_011522132.1:p.Phe458Leu
XM_024450741.1:c.1372T>C XP_024306509.1:p.Phe458Leu
XR_934021.2:n.1431T>C
XR_934022.2:n.1431T>C
XR_934023.2:n.1431T>C
NM_000018.4:c.1372T>C MANE Select NP_000009.1:p.Phe458Leu
NM_001033859.3:c.1306T>C NP_001029031.1:p.Phe436Leu
NM_001270447.2:c.1441T>C NP_001257376.1:p.Phe481Leu
NM_001270448.2:c.1144T>C NP_001257377.1:p.Phe382Leu