Canonical Allele Identifier: CA397724615
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126995C>G (hg19) chr17:g.7223676C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223676C>G , CM000679.2:g.7223676C>G GRCh38
NC_000017.10:g.7126995C>G , CM000679.1:g.7126995C>G GRCh37
NC_000017.9:g.7067719C>G NCBI36
NG_007975.1:g.8843C>G
NG_008391.2:g.1375G>C
NG_033038.1:g.15869G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1215C>G MANE Select ENSP00000349297.5:p.Asp405Glu
ENST00000322910.9:c.*1170C>G ENSP00000325395.5:n.*1170C>G
ENST00000350303.9:c.1149C>G ENSP00000344152.5:p.Asp383Glu
ENST00000356839.9:c.1215C>G ENSP00000349297.5:p.Asp405Glu
ENST00000542255.6:c.73C>G
ENST00000543245.6:c.1284C>G ENSP00000438689.2:p.Asp428Glu
ENST00000578579.2:n.386C>G
ENST00000578711.1:n.172C>G
ENST00000578824.5:n.631C>G
ENST00000579425.5:n.239C>G
ENST00000579546.1:c.52C>G
ENST00000583858.5:c.244C>G
ENST00000585203.6:n.423C>G
NM_000018.3:c.1215C>G NP_000009.1:p.Asp405Glu
NM_001033859.2:c.1149C>G NP_001029031.1:p.Asp383Glu
NM_001270447.1:c.1284C>G NP_001257376.1:p.Asp428Glu
NM_001270448.1:c.987C>G NP_001257377.1:p.Asp329Glu
XM_006721516.2:c.1215C>G XP_006721579.2:p.Asp405Glu
XM_011523829.1:c.1215C>G XP_011522131.1:p.Asp405Glu
XM_011523830.1:c.1215C>G XP_011522132.1:p.Asp405Glu
XR_934021.1:n.1322C>G
XR_934022.1:n.1322C>G
XR_934023.1:n.1322C>G
XM_006721516.3:c.1215C>G XP_006721579.2:p.Asp405Glu
XM_011523829.2:c.1215C>G XP_011522131.1:p.Asp405Glu
XM_011523830.2:c.1215C>G XP_011522132.1:p.Asp405Glu
XM_024450741.1:c.1215C>G XP_024306509.1:p.Asp405Glu
XR_934021.2:n.1274C>G
XR_934022.2:n.1274C>G
XR_934023.2:n.1274C>G
NM_000018.4:c.1215C>G MANE Select NP_000009.1:p.Asp405Glu
NM_001033859.3:c.1149C>G NP_001029031.1:p.Asp383Glu
NM_001270447.2:c.1284C>G NP_001257376.1:p.Asp428Glu
NM_001270448.2:c.987C>G NP_001257377.1:p.Asp329Glu
Search 100 bp 5'
Search 100 bp 3'