Canonical Allele Identifier: CA397725349
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224334G>C , CM000679.2:g.7224334G>C GRCh38
NC_000017.10:g.7127653G>C , CM000679.1:g.7127653G>C GRCh37
NC_000017.9:g.7068377G>C NCBI36
NG_007975.1:g.9501G>C
NG_008391.2:g.717C>G
NG_033038.1:g.15211C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1546G>C MANE Select ENSP00000349297.5:p.Gly516Arg
ENST00000322910.9:c.*1501G>C ENSP00000325395.5:n.*1501G>C
ENST00000350303.9:c.1480G>C ENSP00000344152.5:p.Gly494Arg
ENST00000356839.9:c.1546G>C ENSP00000349297.5:p.Gly516Arg
ENST00000542255.6:c.404G>C
ENST00000543245.6:c.1615G>C ENSP00000438689.2:p.Gly539Arg
ENST00000578319.5:n.41G>C
ENST00000578711.1:n.830G>C
ENST00000578809.5:n.118G>C
ENST00000579391.1:n.154G>C
ENST00000579425.5:n.662G>C
ENST00000579546.1:c.285G>C
ENST00000579894.5:n.333G>C
ENST00000582450.1:n.54G>C
ENST00000583074.5:n.167G>C
ENST00000583850.5:n.321G>C
ENST00000583858.5:c.477G>C
ENST00000585203.6:n.737G>C
NM_000018.3:c.1546G>C NP_000009.1:p.Gly516Arg
NM_001033859.2:c.1480G>C NP_001029031.1:p.Gly494Arg
NM_001270447.1:c.1615G>C NP_001257376.1:p.Gly539Arg
NM_001270448.1:c.1318G>C NP_001257377.1:p.Gly440Arg
XM_006721516.2:c.1546G>C XP_006721579.2:p.Gly516Arg
XM_011523829.1:c.1448G>C XP_011522131.1:p.Gly483Ala
XM_011523830.1:c.1448G>C XP_011522132.1:p.Gly483Ala
XR_934021.1:n.1653G>C
XR_934022.1:n.1555G>C
XR_934023.1:n.1555G>C
XM_006721516.3:c.1546G>C XP_006721579.2:p.Gly516Arg
XM_011523829.2:c.1448G>C XP_011522131.1:p.Gly483Ala
XM_011523830.2:c.1448G>C XP_011522132.1:p.Gly483Ala
XM_024450741.1:c.1448G>C XP_024306509.1:p.Gly483Ala
XR_934021.2:n.1605G>C
XR_934022.2:n.1507G>C
XR_934023.2:n.1507G>C
NM_000018.4:c.1546G>C MANE Select NP_000009.1:p.Gly516Arg
NM_001033859.3:c.1480G>C NP_001029031.1:p.Gly494Arg
NM_001270447.2:c.1615G>C NP_001257376.1:p.Gly539Arg
NM_001270448.2:c.1318G>C NP_001257377.1:p.Gly440Arg