Canonical Allele Identifier: CA397723562
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2680050
ClinVar RCV Id: RCV003465088
MyVariant Identifiers: chr17:g.7125381G>T (hg19) chr17:g.7222062G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222062G>T , CM000679.2:g.7222062G>T GRCh38
NC_000017.10:g.7125381G>T , CM000679.1:g.7125381G>T GRCh37
NC_000017.9:g.7066105G>T NCBI36
NG_007975.1:g.7229G>T
NG_008391.2:g.2989C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.733G>T MANE Select ENSP00000349297.5:p.Gly245Ter
ENST00000322910.9:c.*688G>T ENSP00000325395.5:n.*688G>T
ENST00000350303.9:c.667G>T ENSP00000344152.5:p.Gly223Ter
ENST00000356839.9:c.733G>T ENSP00000349297.5:p.Gly245Ter
ENST00000543245.6:c.802G>T ENSP00000438689.2:p.Gly268Ter
ENST00000577191.5:n.810G>T
ENST00000577857.5:n.549G>T
ENST00000579286.5:n.914G>T
ENST00000580365.1:n.464G>T
ENST00000581378.5:c.451G>T
ENST00000582379.1:n.117G>T
ENST00000583760.1:n.515G>T
NM_000018.3:c.733G>T NP_000009.1:p.Gly245Ter
NM_001033859.2:c.667G>T NP_001029031.1:p.Gly223Ter
NM_001270447.1:c.802G>T NP_001257376.1:p.Gly268Ter
NM_001270448.1:c.505G>T NP_001257377.1:p.Gly169Ter
XM_006721516.2:c.733G>T XP_006721579.2:p.Gly245Ter
XM_011523829.1:c.733G>T XP_011522131.1:p.Gly245Ter
XM_011523830.1:c.733G>T XP_011522132.1:p.Gly245Ter
XR_934021.1:n.840G>T
XR_934022.1:n.840G>T
XR_934023.1:n.840G>T
XM_006721516.3:c.733G>T XP_006721579.2:p.Gly245Ter
XM_011523829.2:c.733G>T XP_011522131.1:p.Gly245Ter
XM_011523830.2:c.733G>T XP_011522132.1:p.Gly245Ter
XM_024450741.1:c.733G>T XP_024306509.1:p.Gly245Ter
XR_934021.2:n.792G>T
XR_934022.2:n.792G>T
XR_934023.2:n.792G>T
NM_000018.4:c.733G>T MANE Select NP_000009.1:p.Gly245Ter
NM_001033859.3:c.667G>T NP_001029031.1:p.Gly223Ter
NM_001270447.2:c.802G>T NP_001257376.1:p.Gly268Ter
NM_001270448.2:c.505G>T NP_001257377.1:p.Gly169Ter
Search 100 bp 5'
Search 100 bp 3'