Canonical Allele Identifier: CA397725353
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224337A>C , CM000679.2:g.7224337A>C GRCh38
NC_000017.10:g.7127656A>C , CM000679.1:g.7127656A>C GRCh37
NC_000017.9:g.7068380A>C NCBI36
NG_007975.1:g.9504A>C
NG_008391.2:g.714T>G
NG_033038.1:g.15208T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1549A>C MANE Select ENSP00000349297.5:p.Ser517Arg
ENST00000322910.9:c.*1504A>C ENSP00000325395.5:n.*1504A>C
ENST00000350303.9:c.1483A>C ENSP00000344152.5:p.Ser495Arg
ENST00000356839.9:c.1549A>C ENSP00000349297.5:p.Ser517Arg
ENST00000542255.6:c.407A>C
ENST00000543245.6:c.1618A>C ENSP00000438689.2:p.Ser540Arg
ENST00000578319.5:n.44A>C
ENST00000578711.1:n.833A>C
ENST00000578809.5:n.121A>C
ENST00000579391.1:n.157A>C
ENST00000579425.5:n.665A>C
ENST00000579546.1:c.288A>C
ENST00000579894.5:n.336A>C
ENST00000582450.1:n.57A>C
ENST00000583074.5:n.170A>C
ENST00000583850.5:n.324A>C
ENST00000583858.5:c.480A>C
ENST00000585203.6:n.740A>C
NM_000018.3:c.1549A>C NP_000009.1:p.Ser517Arg
NM_001033859.2:c.1483A>C NP_001029031.1:p.Ser495Arg
NM_001270447.1:c.1618A>C NP_001257376.1:p.Ser540Arg
NM_001270448.1:c.1321A>C NP_001257377.1:p.Ser441Arg
XM_006721516.2:c.1549A>C XP_006721579.2:p.Ser517Arg
XM_011523829.1:c.1451A>C XP_011522131.1:p.Gln484Pro
XM_011523830.1:c.1451A>C XP_011522132.1:p.Gln484Pro
XR_934021.1:n.1656A>C
XR_934022.1:n.1558A>C
XR_934023.1:n.1558A>C
XM_006721516.3:c.1549A>C XP_006721579.2:p.Ser517Arg
XM_011523829.2:c.1451A>C XP_011522131.1:p.Gln484Pro
XM_011523830.2:c.1451A>C XP_011522132.1:p.Gln484Pro
XM_024450741.1:c.1451A>C XP_024306509.1:p.Gln484Pro
XR_934021.2:n.1608A>C
XR_934022.2:n.1510A>C
XR_934023.2:n.1510A>C
NM_000018.4:c.1549A>C MANE Select NP_000009.1:p.Ser517Arg
NM_001033859.3:c.1483A>C NP_001029031.1:p.Ser495Arg
NM_001270447.2:c.1618A>C NP_001257376.1:p.Ser540Arg
NM_001270448.2:c.1321A>C NP_001257377.1:p.Ser441Arg