Canonical Allele Identifier: CA397723174
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932792
ClinVar RCV Id: RCV001200739
dbSNP Id: rs2071231444

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.563G>A MANE Select ENSP00000349297.5:p.Gly188Asp
ENST00000322910.9:c.*518G>A ENSP00000325395.5:n.*518G>A
ENST00000350303.9:c.497G>A ENSP00000344152.5:p.Gly166Asp
ENST00000356839.9:c.563G>A ENSP00000349297.5:p.Gly188Asp
ENST00000543245.6:c.632G>A ENSP00000438689.2:p.Gly211Asp
ENST00000577191.5:n.640G>A
ENST00000577433.5:n.771G>A
ENST00000577857.5:n.379G>A
ENST00000579286.5:n.744G>A
ENST00000579886.2:c.401G>A ENSP00000463246.1:p.Gly134Asp
ENST00000580365.1:n.294G>A
ENST00000581378.5:c.281G>A
ENST00000581562.5:n.525-329G>A
ENST00000582166.1:n.544G>A
ENST00000583312.5:c.563G>A ENSP00000467920.1:p.Gly188Asp
ENST00000583760.1:n.345G>A
NM_000018.3:c.563G>A NP_000009.1:p.Gly188Asp
NM_001033859.2:c.497G>A NP_001029031.1:p.Gly166Asp
NM_001270447.1:c.632G>A NP_001257376.1:p.Gly211Asp
NM_001270448.1:c.335G>A NP_001257377.1:p.Gly112Asp
XM_006721516.2:c.563G>A XP_006721579.2:p.Gly188Asp
XM_011523829.1:c.563G>A XP_011522131.1:p.Gly188Asp
XM_011523830.1:c.563G>A XP_011522132.1:p.Gly188Asp
XR_934021.1:n.670G>A
XR_934022.1:n.670G>A
XR_934023.1:n.670G>A
XM_006721516.3:c.563G>A XP_006721579.2:p.Gly188Asp
XM_011523829.2:c.563G>A XP_011522131.1:p.Gly188Asp
XM_011523830.2:c.563G>A XP_011522132.1:p.Gly188Asp
XM_024450741.1:c.563G>A XP_024306509.1:p.Gly188Asp
XR_934021.2:n.622G>A
XR_934022.2:n.622G>A
XR_934023.2:n.622G>A
NM_000018.4:c.563G>A MANE Select NP_000009.1:p.Gly188Asp
NM_001033859.3:c.497G>A NP_001029031.1:p.Gly166Asp
NM_001270447.2:c.632G>A NP_001257376.1:p.Gly211Asp
NM_001270448.2:c.335G>A NP_001257377.1:p.Gly112Asp