Canonical Allele Identifier: CA397724018
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222728G>C , CM000679.2:g.7222728G>C GRCh38
NC_000017.10:g.7126047G>C , CM000679.1:g.7126047G>C GRCh37
NC_000017.9:g.7066771G>C NCBI36
NG_007975.1:g.7895G>C
NG_008391.2:g.2323C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.940G>C MANE Select ENSP00000349297.5:p.Gly314Arg
ENST00000322910.9:c.*895G>C ENSP00000325395.5:n.*895G>C
ENST00000350303.9:c.874G>C ENSP00000344152.5:p.Gly292Arg
ENST00000356839.9:c.940G>C ENSP00000349297.5:p.Gly314Arg
ENST00000543245.6:c.1009G>C ENSP00000438689.2:p.Gly337Arg
ENST00000578824.5:n.89G>C
ENST00000581378.5:c.658G>C
ENST00000582379.1:n.324G>C
NM_000018.3:c.940G>C NP_000009.1:p.Gly314Arg
NM_001033859.2:c.874G>C NP_001029031.1:p.Gly292Arg
NM_001270447.1:c.1009G>C NP_001257376.1:p.Gly337Arg
NM_001270448.1:c.712G>C NP_001257377.1:p.Gly238Arg
XM_006721516.2:c.940G>C XP_006721579.2:p.Gly314Arg
XM_011523829.1:c.940G>C XP_011522131.1:p.Gly314Arg
XM_011523830.1:c.940G>C XP_011522132.1:p.Gly314Arg
XR_934021.1:n.1047G>C
XR_934022.1:n.1047G>C
XR_934023.1:n.1047G>C
XM_006721516.3:c.940G>C XP_006721579.2:p.Gly314Arg
XM_011523829.2:c.940G>C XP_011522131.1:p.Gly314Arg
XM_011523830.2:c.940G>C XP_011522132.1:p.Gly314Arg
XM_024450741.1:c.940G>C XP_024306509.1:p.Gly314Arg
XR_934021.2:n.999G>C
XR_934022.2:n.999G>C
XR_934023.2:n.999G>C
NM_000018.4:c.940G>C MANE Select NP_000009.1:p.Gly314Arg
NM_001033859.3:c.874G>C NP_001029031.1:p.Gly292Arg
NM_001270447.2:c.1009G>C NP_001257376.1:p.Gly337Arg
NM_001270448.2:c.712G>C NP_001257377.1:p.Gly238Arg