Canonical Allele Identifier: CA397724200
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126137A>G (hg19) chr17:g.7222818A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222818A>G , CM000679.2:g.7222818A>G GRCh38
NC_000017.10:g.7126137A>G , CM000679.1:g.7126137A>G GRCh37
NC_000017.9:g.7066861A>G NCBI36
NG_007975.1:g.7985A>G
NG_008391.2:g.2233T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1030A>G MANE Select ENSP00000349297.5:p.Met344Val
ENST00000322910.9:c.*985A>G ENSP00000325395.5:n.*985A>G
ENST00000350303.9:c.964A>G ENSP00000344152.5:p.Met322Val
ENST00000356839.9:c.1030A>G ENSP00000349297.5:p.Met344Val
ENST00000543245.6:c.1099A>G ENSP00000438689.2:p.Met367Val
ENST00000578824.5:n.179A>G
ENST00000581378.5:c.748A>G
ENST00000582379.1:n.414A>G
ENST00000583858.5:c.59A>G
NM_000018.3:c.1030A>G NP_000009.1:p.Met344Val
NM_001033859.2:c.964A>G NP_001029031.1:p.Met322Val
NM_001270447.1:c.1099A>G NP_001257376.1:p.Met367Val
NM_001270448.1:c.802A>G NP_001257377.1:p.Met268Val
XM_006721516.2:c.1030A>G XP_006721579.2:p.Met344Val
XM_011523829.1:c.1030A>G XP_011522131.1:p.Met344Val
XM_011523830.1:c.1030A>G XP_011522132.1:p.Met344Val
XR_934021.1:n.1137A>G
XR_934022.1:n.1137A>G
XR_934023.1:n.1137A>G
XM_006721516.3:c.1030A>G XP_006721579.2:p.Met344Val
XM_011523829.2:c.1030A>G XP_011522131.1:p.Met344Val
XM_011523830.2:c.1030A>G XP_011522132.1:p.Met344Val
XM_024450741.1:c.1030A>G XP_024306509.1:p.Met344Val
XR_934021.2:n.1089A>G
XR_934022.2:n.1089A>G
XR_934023.2:n.1089A>G
NM_000018.4:c.1030A>G MANE Select NP_000009.1:p.Met344Val
NM_001033859.3:c.964A>G NP_001029031.1:p.Met322Val
NM_001270447.2:c.1099A>G NP_001257376.1:p.Met367Val
NM_001270448.2:c.802A>G NP_001257377.1:p.Met268Val
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