Canonical Allele Identifier: CA397723655
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125514C>G (hg19) chr17:g.7222195C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222195C>G , CM000679.2:g.7222195C>G GRCh38
NC_000017.10:g.7125514C>G , CM000679.1:g.7125514C>G GRCh37
NC_000017.9:g.7066238C>G NCBI36
NG_007975.1:g.7362C>G
NG_008391.2:g.2856G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.771C>G MANE Select ENSP00000349297.5:p.Asp257Glu
ENST00000322910.9:c.*726C>G ENSP00000325395.5:n.*726C>G
ENST00000350303.9:c.705C>G ENSP00000344152.5:p.Asp235Glu
ENST00000356839.9:c.771C>G ENSP00000349297.5:p.Asp257Glu
ENST00000543245.6:c.840C>G ENSP00000438689.2:p.Asp280Glu
ENST00000577191.5:n.943C>G
ENST00000581378.5:c.489C>G
ENST00000582379.1:n.155C>G
NM_000018.3:c.771C>G NP_000009.1:p.Asp257Glu
NM_001033859.2:c.705C>G NP_001029031.1:p.Asp235Glu
NM_001270447.1:c.840C>G NP_001257376.1:p.Asp280Glu
NM_001270448.1:c.543C>G NP_001257377.1:p.Asp181Glu
XM_006721516.2:c.771C>G XP_006721579.2:p.Asp257Glu
XM_011523829.1:c.771C>G XP_011522131.1:p.Asp257Glu
XM_011523830.1:c.771C>G XP_011522132.1:p.Asp257Glu
XR_934021.1:n.878C>G
XR_934022.1:n.878C>G
XR_934023.1:n.878C>G
XM_006721516.3:c.771C>G XP_006721579.2:p.Asp257Glu
XM_011523829.2:c.771C>G XP_011522131.1:p.Asp257Glu
XM_011523830.2:c.771C>G XP_011522132.1:p.Asp257Glu
XM_024450741.1:c.771C>G XP_024306509.1:p.Asp257Glu
XR_934021.2:n.830C>G
XR_934022.2:n.830C>G
XR_934023.2:n.830C>G
NM_000018.4:c.771C>G MANE Select NP_000009.1:p.Asp257Glu
NM_001033859.3:c.705C>G NP_001029031.1:p.Asp235Glu
NM_001270447.2:c.840C>G NP_001257376.1:p.Asp280Glu
NM_001270448.2:c.543C>G NP_001257377.1:p.Asp181Glu
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