Canonical Allele Identifier: CA397723173
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221623G>T , CM000679.2:g.7221623G>T GRCh38
NC_000017.10:g.7124942G>T , CM000679.1:g.7124942G>T GRCh37
NC_000017.9:g.7065666G>T NCBI36
NG_007975.1:g.6790G>T
NG_008391.2:g.3428C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.563G>T MANE Select ENSP00000349297.5:p.Gly188Val
ENST00000322910.9:c.*518G>T ENSP00000325395.5:p.=
ENST00000350303.9:c.497G>T ENSP00000344152.5:p.Gly166Val
ENST00000356839.9:c.563G>T ENSP00000349297.5:p.Gly188Val
ENST00000543245.6:c.632G>T ENSP00000438689.2:p.Gly211Val
ENST00000577191.5:n.640G>T
ENST00000577433.5:n.771G>T
ENST00000577857.5:n.379G>T
ENST00000579286.5:n.744G>T
ENST00000579886.2:c.401G>T ENSP00000463246.1:p.Gly134Val
ENST00000580365.1:n.294G>T
ENST00000581378.5:n.281G>T
ENST00000581562.5:n.525-329G>T
ENST00000582166.1:n.544G>T
ENST00000583312.5:c.563G>T ENSP00000467920.1:p.Gly188Val
ENST00000583760.1:n.345G>T
NM_000018.3:c.563G>T NP_000009.1:p.Gly188Val
NM_001033859.2:c.497G>T NP_001029031.1:p.Gly166Val
NM_001270447.1:c.632G>T NP_001257376.1:p.Gly211Val
NM_001270448.1:c.335G>T NP_001257377.1:p.Gly112Val
XM_006721516.2:c.563G>T XP_006721579.2:p.Gly188Val
XM_011523829.1:c.563G>T XP_011522131.1:p.Gly188Val
XM_011523830.1:c.563G>T XP_011522132.1:p.Gly188Val
XR_934021.1:n.670G>T
XR_934022.1:n.670G>T
XR_934023.1:n.670G>T
XM_006721516.3:c.563G>T XP_006721579.2:p.Gly188Val
XM_011523829.2:c.563G>T XP_011522131.1:p.Gly188Val
XM_011523830.2:c.563G>T XP_011522132.1:p.Gly188Val
XM_024450741.1:c.563G>T XP_024306509.1:p.Gly188Val
XR_934021.2:n.622G>T
XR_934022.2:n.622G>T
XR_934023.2:n.622G>T
NM_000018.4:c.563G>T MANE Select NP_000009.1:p.Gly188Val
NM_001033859.3:c.497G>T NP_001029031.1:p.Gly166Val
NM_001270447.2:c.632G>T NP_001257376.1:p.Gly211Val
NM_001270448.2:c.335G>T NP_001257377.1:p.Gly112Val