Canonical Allele Identifier: CA397725369
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224346A>C , CM000679.2:g.7224346A>C GRCh38
NC_000017.10:g.7127665A>C , CM000679.1:g.7127665A>C GRCh37
NC_000017.9:g.7068389A>C NCBI36
NG_007975.1:g.9513A>C
NG_008391.2:g.705T>G
NG_033038.1:g.15199T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1558A>C MANE Select ENSP00000349297.5:p.Ser520Arg
ENST00000322910.9:c.*1513A>C ENSP00000325395.5:n.*1513A>C
ENST00000350303.9:c.1492A>C ENSP00000344152.5:p.Ser498Arg
ENST00000356839.9:c.1558A>C ENSP00000349297.5:p.Ser520Arg
ENST00000542255.6:c.416A>C
ENST00000543245.6:c.1627A>C ENSP00000438689.2:p.Ser543Arg
ENST00000578319.5:n.53A>C
ENST00000578711.1:n.842A>C
ENST00000578809.5:n.130A>C
ENST00000579391.1:n.166A>C
ENST00000579425.5:n.674A>C
ENST00000579546.1:c.297A>C
ENST00000579894.5:n.345A>C
ENST00000582450.1:n.66A>C
ENST00000583074.5:n.179A>C
ENST00000583850.5:n.333A>C
ENST00000583858.5:c.489A>C
ENST00000585203.6:n.749A>C
NM_000018.3:c.1558A>C NP_000009.1:p.Ser520Arg
NM_001033859.2:c.1492A>C NP_001029031.1:p.Ser498Arg
NM_001270447.1:c.1627A>C NP_001257376.1:p.Ser543Arg
NM_001270448.1:c.1330A>C NP_001257377.1:p.Ser444Arg
XM_006721516.2:c.1558A>C XP_006721579.2:p.Ser520Arg
XM_011523829.1:c.1460A>C XP_011522131.1:p.Glu487Ala
XM_011523830.1:c.1460A>C XP_011522132.1:p.Glu487Ala
XR_934021.1:n.1665A>C
XR_934022.1:n.1567A>C
XR_934023.1:n.1567A>C
XM_006721516.3:c.1558A>C XP_006721579.2:p.Ser520Arg
XM_011523829.2:c.1460A>C XP_011522131.1:p.Glu487Ala
XM_011523830.2:c.1460A>C XP_011522132.1:p.Glu487Ala
XM_024450741.1:c.1460A>C XP_024306509.1:p.Glu487Ala
XR_934021.2:n.1617A>C
XR_934022.2:n.1519A>C
XR_934023.2:n.1519A>C
NM_000018.4:c.1558A>C MANE Select NP_000009.1:p.Ser520Arg
NM_001033859.3:c.1492A>C NP_001029031.1:p.Ser498Arg
NM_001270447.2:c.1627A>C NP_001257376.1:p.Ser543Arg
NM_001270448.2:c.1330A>C NP_001257377.1:p.Ser444Arg