Canonical Allele Identifier: CA397724003
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071289542

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222722T>C , CM000679.2:g.7222722T>C GRCh38
NC_000017.10:g.7126041T>C , CM000679.1:g.7126041T>C GRCh37
NC_000017.9:g.7066765T>C NCBI36
NG_007975.1:g.7889T>C
NG_008391.2:g.2329A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.934T>C MANE Select ENSP00000349297.5:p.Phe312Leu
ENST00000322910.9:c.*889T>C ENSP00000325395.5:n.*889T>C
ENST00000350303.9:c.868T>C ENSP00000344152.5:p.Phe290Leu
ENST00000356839.9:c.934T>C ENSP00000349297.5:p.Phe312Leu
ENST00000543245.6:c.1003T>C ENSP00000438689.2:p.Phe335Leu
ENST00000578824.5:n.83T>C
ENST00000581378.5:c.652T>C
ENST00000582379.1:n.318T>C
NM_000018.3:c.934T>C NP_000009.1:p.Phe312Leu
NM_001033859.2:c.868T>C NP_001029031.1:p.Phe290Leu
NM_001270447.1:c.1003T>C NP_001257376.1:p.Phe335Leu
NM_001270448.1:c.706T>C NP_001257377.1:p.Phe236Leu
XM_006721516.2:c.934T>C XP_006721579.2:p.Phe312Leu
XM_011523829.1:c.934T>C XP_011522131.1:p.Phe312Leu
XM_011523830.1:c.934T>C XP_011522132.1:p.Phe312Leu
XR_934021.1:n.1041T>C
XR_934022.1:n.1041T>C
XR_934023.1:n.1041T>C
XM_006721516.3:c.934T>C XP_006721579.2:p.Phe312Leu
XM_011523829.2:c.934T>C XP_011522131.1:p.Phe312Leu
XM_011523830.2:c.934T>C XP_011522132.1:p.Phe312Leu
XM_024450741.1:c.934T>C XP_024306509.1:p.Phe312Leu
XR_934021.2:n.993T>C
XR_934022.2:n.993T>C
XR_934023.2:n.993T>C
NM_000018.4:c.934T>C MANE Select NP_000009.1:p.Phe312Leu
NM_001033859.3:c.868T>C NP_001029031.1:p.Phe290Leu
NM_001270447.2:c.1003T>C NP_001257376.1:p.Phe335Leu
NM_001270448.2:c.706T>C NP_001257377.1:p.Phe236Leu