Canonical Allele Identifier: CA397723970
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126025C>G (hg19) chr17:g.7222706C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222706C>G , CM000679.2:g.7222706C>G GRCh38
NC_000017.10:g.7126025C>G , CM000679.1:g.7126025C>G GRCh37
NC_000017.9:g.7066749C>G NCBI36
NG_007975.1:g.7873C>G
NG_008391.2:g.2345G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.918C>G MANE Select ENSP00000349297.5:p.Asn306Lys
ENST00000322910.9:c.*873C>G ENSP00000325395.5:n.*873C>G
ENST00000350303.9:c.852C>G ENSP00000344152.5:p.Asn284Lys
ENST00000356839.9:c.918C>G ENSP00000349297.5:p.Asn306Lys
ENST00000543245.6:c.987C>G ENSP00000438689.2:p.Asn329Lys
ENST00000578824.5:n.67C>G
ENST00000581378.5:c.636C>G
ENST00000582379.1:n.302C>G
NM_000018.3:c.918C>G NP_000009.1:p.Asn306Lys
NM_001033859.2:c.852C>G NP_001029031.1:p.Asn284Lys
NM_001270447.1:c.987C>G NP_001257376.1:p.Asn329Lys
NM_001270448.1:c.690C>G NP_001257377.1:p.Asn230Lys
XM_006721516.2:c.918C>G XP_006721579.2:p.Asn306Lys
XM_011523829.1:c.918C>G XP_011522131.1:p.Asn306Lys
XM_011523830.1:c.918C>G XP_011522132.1:p.Asn306Lys
XR_934021.1:n.1025C>G
XR_934022.1:n.1025C>G
XR_934023.1:n.1025C>G
XM_006721516.3:c.918C>G XP_006721579.2:p.Asn306Lys
XM_011523829.2:c.918C>G XP_011522131.1:p.Asn306Lys
XM_011523830.2:c.918C>G XP_011522132.1:p.Asn306Lys
XM_024450741.1:c.918C>G XP_024306509.1:p.Asn306Lys
XR_934021.2:n.977C>G
XR_934022.2:n.977C>G
XR_934023.2:n.977C>G
NM_000018.4:c.918C>G MANE Select NP_000009.1:p.Asn306Lys
NM_001033859.3:c.852C>G NP_001029031.1:p.Asn284Lys
NM_001270447.2:c.987C>G NP_001257376.1:p.Asn329Lys
NM_001270448.2:c.690C>G NP_001257377.1:p.Asn230Lys
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