Canonical Allele Identifier: CA397723553
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125378A>G (hg19) chr17:g.7222059A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222059A>G , CM000679.2:g.7222059A>G GRCh38
NC_000017.10:g.7125378A>G , CM000679.1:g.7125378A>G GRCh37
NC_000017.9:g.7066102A>G NCBI36
NG_007975.1:g.7226A>G
NG_008391.2:g.2992T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.730A>G MANE Select ENSP00000349297.5:p.Asn244Asp
ENST00000322910.9:c.*685A>G ENSP00000325395.5:n.*685A>G
ENST00000350303.9:c.664A>G ENSP00000344152.5:p.Asn222Asp
ENST00000356839.9:c.730A>G ENSP00000349297.5:p.Asn244Asp
ENST00000543245.6:c.799A>G ENSP00000438689.2:p.Asn267Asp
ENST00000577191.5:n.807A>G
ENST00000577857.5:n.546A>G
ENST00000579286.5:n.911A>G
ENST00000580365.1:n.461A>G
ENST00000581378.5:c.448A>G
ENST00000582379.1:n.114A>G
ENST00000583760.1:n.512A>G
NM_000018.3:c.730A>G NP_000009.1:p.Asn244Asp
NM_001033859.2:c.664A>G NP_001029031.1:p.Asn222Asp
NM_001270447.1:c.799A>G NP_001257376.1:p.Asn267Asp
NM_001270448.1:c.502A>G NP_001257377.1:p.Asn168Asp
XM_006721516.2:c.730A>G XP_006721579.2:p.Asn244Asp
XM_011523829.1:c.730A>G XP_011522131.1:p.Asn244Asp
XM_011523830.1:c.730A>G XP_011522132.1:p.Asn244Asp
XR_934021.1:n.837A>G
XR_934022.1:n.837A>G
XR_934023.1:n.837A>G
XM_006721516.3:c.730A>G XP_006721579.2:p.Asn244Asp
XM_011523829.2:c.730A>G XP_011522131.1:p.Asn244Asp
XM_011523830.2:c.730A>G XP_011522132.1:p.Asn244Asp
XM_024450741.1:c.730A>G XP_024306509.1:p.Asn244Asp
XR_934021.2:n.789A>G
XR_934022.2:n.789A>G
XR_934023.2:n.789A>G
NM_000018.4:c.730A>G MANE Select NP_000009.1:p.Asn244Asp
NM_001033859.3:c.664A>G NP_001029031.1:p.Asn222Asp
NM_001270447.2:c.799A>G NP_001257376.1:p.Asn267Asp
NM_001270448.2:c.502A>G NP_001257377.1:p.Asn168Asp
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