Canonical Allele Identifier: CA397725359
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224339C>G , CM000679.2:g.7224339C>G GRCh38
NC_000017.10:g.7127658C>G , CM000679.1:g.7127658C>G GRCh37
NC_000017.9:g.7068382C>G NCBI36
NG_007975.1:g.9506C>G
NG_008391.2:g.712G>C
NG_033038.1:g.15206G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1551C>G MANE Select ENSP00000349297.5:p.Ser517Arg
ENST00000322910.9:c.*1506C>G ENSP00000325395.5:n.*1506C>G
ENST00000350303.9:c.1485C>G ENSP00000344152.5:p.Ser495Arg
ENST00000356839.9:c.1551C>G ENSP00000349297.5:p.Ser517Arg
ENST00000542255.6:c.409C>G
ENST00000543245.6:c.1620C>G ENSP00000438689.2:p.Ser540Arg
ENST00000578319.5:n.46C>G
ENST00000578711.1:n.835C>G
ENST00000578809.5:n.123C>G
ENST00000579391.1:n.159C>G
ENST00000579425.5:n.667C>G
ENST00000579546.1:c.290C>G
ENST00000579894.5:n.338C>G
ENST00000582450.1:n.59C>G
ENST00000583074.5:n.172C>G
ENST00000583850.5:n.326C>G
ENST00000583858.5:c.482C>G
ENST00000585203.6:n.742C>G
NM_000018.3:c.1551C>G NP_000009.1:p.Ser517Arg
NM_001033859.2:c.1485C>G NP_001029031.1:p.Ser495Arg
NM_001270447.1:c.1620C>G NP_001257376.1:p.Ser540Arg
NM_001270448.1:c.1323C>G NP_001257377.1:p.Ser441Arg
XM_006721516.2:c.1551C>G XP_006721579.2:p.Ser517Arg
XM_011523829.1:c.1453C>G XP_011522131.1:p.Arg485Gly
XM_011523830.1:c.1453C>G XP_011522132.1:p.Arg485Gly
XR_934021.1:n.1658C>G
XR_934022.1:n.1560C>G
XR_934023.1:n.1560C>G
XM_006721516.3:c.1551C>G XP_006721579.2:p.Ser517Arg
XM_011523829.2:c.1453C>G XP_011522131.1:p.Arg485Gly
XM_011523830.2:c.1453C>G XP_011522132.1:p.Arg485Gly
XM_024450741.1:c.1453C>G XP_024306509.1:p.Arg485Gly
XR_934021.2:n.1610C>G
XR_934022.2:n.1512C>G
XR_934023.2:n.1512C>G
NM_000018.4:c.1551C>G MANE Select NP_000009.1:p.Ser517Arg
NM_001033859.3:c.1485C>G NP_001029031.1:p.Ser495Arg
NM_001270447.2:c.1620C>G NP_001257376.1:p.Ser540Arg
NM_001270448.2:c.1323C>G NP_001257377.1:p.Ser441Arg