Canonical Allele Identifier: CA397724594
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126987A>G (hg19) chr17:g.7223668A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223668A>G , CM000679.2:g.7223668A>G GRCh38
NC_000017.10:g.7126987A>G , CM000679.1:g.7126987A>G GRCh37
NC_000017.9:g.7067711A>G NCBI36
NG_007975.1:g.8835A>G
NG_008391.2:g.1383T>C
NG_033038.1:g.15877T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1207A>G MANE Select ENSP00000349297.5:p.Asn403Asp
ENST00000322910.9:c.*1162A>G ENSP00000325395.5:n.*1162A>G
ENST00000350303.9:c.1141A>G ENSP00000344152.5:p.Asn381Asp
ENST00000356839.9:c.1207A>G ENSP00000349297.5:p.Asn403Asp
ENST00000542255.6:c.65A>G
ENST00000543245.6:c.1276A>G ENSP00000438689.2:p.Asn426Asp
ENST00000578579.2:n.378A>G
ENST00000578711.1:n.164A>G
ENST00000578824.5:n.623A>G
ENST00000579425.5:n.231A>G
ENST00000579546.1:c.44A>G
ENST00000583858.5:c.236A>G
ENST00000585203.6:n.415A>G
NM_000018.3:c.1207A>G NP_000009.1:p.Asn403Asp
NM_001033859.2:c.1141A>G NP_001029031.1:p.Asn381Asp
NM_001270447.1:c.1276A>G NP_001257376.1:p.Asn426Asp
NM_001270448.1:c.979A>G NP_001257377.1:p.Asn327Asp
XM_006721516.2:c.1207A>G XP_006721579.2:p.Asn403Asp
XM_011523829.1:c.1207A>G XP_011522131.1:p.Asn403Asp
XM_011523830.1:c.1207A>G XP_011522132.1:p.Asn403Asp
XR_934021.1:n.1314A>G
XR_934022.1:n.1314A>G
XR_934023.1:n.1314A>G
XM_006721516.3:c.1207A>G XP_006721579.2:p.Asn403Asp
XM_011523829.2:c.1207A>G XP_011522131.1:p.Asn403Asp
XM_011523830.2:c.1207A>G XP_011522132.1:p.Asn403Asp
XM_024450741.1:c.1207A>G XP_024306509.1:p.Asn403Asp
XR_934021.2:n.1266A>G
XR_934022.2:n.1266A>G
XR_934023.2:n.1266A>G
NM_000018.4:c.1207A>G MANE Select NP_000009.1:p.Asn403Asp
NM_001033859.3:c.1141A>G NP_001029031.1:p.Asn381Asp
NM_001270447.2:c.1276A>G NP_001257376.1:p.Asn426Asp
NM_001270448.2:c.979A>G NP_001257377.1:p.Asn327Asp
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