Canonical Allele Identifier: CA397724863
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223864G>C , CM000679.2:g.7223864G>C GRCh38
NC_000017.10:g.7127183G>C , CM000679.1:g.7127183G>C GRCh37
NC_000017.9:g.7067907G>C NCBI36
NG_007975.1:g.9031G>C
NG_008391.2:g.1187C>G
NG_033038.1:g.15681C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1321G>C MANE Select ENSP00000349297.5:p.Gly441Arg
ENST00000322910.9:c.*1276G>C ENSP00000325395.5:n.*1276G>C
ENST00000350303.9:c.1255G>C ENSP00000344152.5:p.Gly419Arg
ENST00000356839.9:c.1321G>C ENSP00000349297.5:p.Gly441Arg
ENST00000542255.6:c.179G>C
ENST00000543245.6:c.1390G>C ENSP00000438689.2:p.Gly464Arg
ENST00000578711.1:n.360G>C
ENST00000579425.5:n.345G>C
ENST00000579546.1:c.158G>C
ENST00000583074.5:n.40G>C
ENST00000583850.5:n.96G>C
ENST00000583858.5:c.350G>C
ENST00000585203.6:n.523+6G>C
NM_000018.3:c.1321G>C NP_000009.1:p.Gly441Arg
NM_001033859.2:c.1255G>C NP_001029031.1:p.Gly419Arg
NM_001270447.1:c.1390G>C NP_001257376.1:p.Gly464Arg
NM_001270448.1:c.1093G>C NP_001257377.1:p.Gly365Arg
XM_006721516.2:c.1321G>C XP_006721579.2:p.Gly441Arg
XM_011523829.1:c.1321G>C XP_011522131.1:p.Gly441Arg
XM_011523830.1:c.1321G>C XP_011522132.1:p.Gly441Arg
XR_934021.1:n.1428G>C
XR_934022.1:n.1428G>C
XR_934023.1:n.1428G>C
XM_006721516.3:c.1321G>C XP_006721579.2:p.Gly441Arg
XM_011523829.2:c.1321G>C XP_011522131.1:p.Gly441Arg
XM_011523830.2:c.1321G>C XP_011522132.1:p.Gly441Arg
XM_024450741.1:c.1321G>C XP_024306509.1:p.Gly441Arg
XR_934021.2:n.1380G>C
XR_934022.2:n.1380G>C
XR_934023.2:n.1380G>C
NM_000018.4:c.1321G>C MANE Select NP_000009.1:p.Gly441Arg
NM_001033859.3:c.1255G>C NP_001029031.1:p.Gly419Arg
NM_001270447.2:c.1390G>C NP_001257376.1:p.Gly464Arg
NM_001270448.2:c.1093G>C NP_001257377.1:p.Gly365Arg