Canonical Allele Identifier: CA397723171
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221622G>C , CM000679.2:g.7221622G>C GRCh38
NC_000017.10:g.7124941G>C , CM000679.1:g.7124941G>C GRCh37
NC_000017.9:g.7065665G>C NCBI36
NG_007975.1:g.6789G>C
NG_008391.2:g.3429C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.562G>C MANE Select ENSP00000349297.5:p.Gly188Arg
ENST00000322910.9:c.*517G>C ENSP00000325395.5:p.=
ENST00000350303.9:c.496G>C ENSP00000344152.5:p.Gly166Arg
ENST00000356839.9:c.562G>C ENSP00000349297.5:p.Gly188Arg
ENST00000543245.6:c.631G>C ENSP00000438689.2:p.Gly211Arg
ENST00000577191.5:n.639G>C
ENST00000577433.5:n.770G>C
ENST00000577857.5:n.378G>C
ENST00000579286.5:n.743G>C
ENST00000579886.2:c.400G>C ENSP00000463246.1:p.Gly134Arg
ENST00000580365.1:n.293G>C
ENST00000581378.5:n.280G>C
ENST00000581562.5:n.525-330G>C
ENST00000582166.1:n.543G>C
ENST00000583312.5:c.562G>C ENSP00000467920.1:p.Gly188Arg
ENST00000583760.1:n.344G>C
NM_000018.3:c.562G>C NP_000009.1:p.Gly188Arg
NM_001033859.2:c.496G>C NP_001029031.1:p.Gly166Arg
NM_001270447.1:c.631G>C NP_001257376.1:p.Gly211Arg
NM_001270448.1:c.334G>C NP_001257377.1:p.Gly112Arg
XM_006721516.2:c.562G>C XP_006721579.2:p.Gly188Arg
XM_011523829.1:c.562G>C XP_011522131.1:p.Gly188Arg
XM_011523830.1:c.562G>C XP_011522132.1:p.Gly188Arg
XR_934021.1:n.669G>C
XR_934022.1:n.669G>C
XR_934023.1:n.669G>C
XM_006721516.3:c.562G>C XP_006721579.2:p.Gly188Arg
XM_011523829.2:c.562G>C XP_011522131.1:p.Gly188Arg
XM_011523830.2:c.562G>C XP_011522132.1:p.Gly188Arg
XM_024450741.1:c.562G>C XP_024306509.1:p.Gly188Arg
XR_934021.2:n.621G>C
XR_934022.2:n.621G>C
XR_934023.2:n.621G>C
NM_000018.4:c.562G>C MANE Select NP_000009.1:p.Gly188Arg
NM_001033859.3:c.496G>C NP_001029031.1:p.Gly166Arg
NM_001270447.2:c.631G>C NP_001257376.1:p.Gly211Arg
NM_001270448.2:c.334G>C NP_001257377.1:p.Gly112Arg