Canonical Allele Identifier: CA397724885
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127192A>G (hg19) chr17:g.7223873A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223873A>G , CM000679.2:g.7223873A>G GRCh38
NC_000017.10:g.7127192A>G , CM000679.1:g.7127192A>G GRCh37
NC_000017.9:g.7067916A>G NCBI36
NG_007975.1:g.9040A>G
NG_008391.2:g.1178T>C
NG_033038.1:g.15672T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1330A>G MANE Select ENSP00000349297.5:p.Lys444Glu
ENST00000322910.9:c.*1285A>G ENSP00000325395.5:n.*1285A>G
ENST00000350303.9:c.1264A>G ENSP00000344152.5:p.Lys422Glu
ENST00000356839.9:c.1330A>G ENSP00000349297.5:p.Lys444Glu
ENST00000542255.6:c.188A>G
ENST00000543245.6:c.1399A>G ENSP00000438689.2:p.Lys467Glu
ENST00000578711.1:n.369A>G
ENST00000579425.5:n.354A>G
ENST00000579546.1:c.167A>G
ENST00000583074.5:n.49A>G
ENST00000583850.5:n.105A>G
ENST00000583858.5:c.359A>G
ENST00000585203.6:n.523+15A>G
NM_000018.3:c.1330A>G NP_000009.1:p.Lys444Glu
NM_001033859.2:c.1264A>G NP_001029031.1:p.Lys422Glu
NM_001270447.1:c.1399A>G NP_001257376.1:p.Lys467Glu
NM_001270448.1:c.1102A>G NP_001257377.1:p.Lys368Glu
XM_006721516.2:c.1330A>G XP_006721579.2:p.Lys444Glu
XM_011523829.1:c.1330A>G XP_011522131.1:p.Lys444Glu
XM_011523830.1:c.1330A>G XP_011522132.1:p.Lys444Glu
XR_934021.1:n.1437A>G
XR_934022.1:n.1437A>G
XR_934023.1:n.1437A>G
XM_006721516.3:c.1330A>G XP_006721579.2:p.Lys444Glu
XM_011523829.2:c.1330A>G XP_011522131.1:p.Lys444Glu
XM_011523830.2:c.1330A>G XP_011522132.1:p.Lys444Glu
XM_024450741.1:c.1330A>G XP_024306509.1:p.Lys444Glu
XR_934021.2:n.1389A>G
XR_934022.2:n.1389A>G
XR_934023.2:n.1389A>G
NM_000018.4:c.1330A>G MANE Select NP_000009.1:p.Lys444Glu
NM_001033859.3:c.1264A>G NP_001029031.1:p.Lys422Glu
NM_001270447.2:c.1399A>G NP_001257376.1:p.Lys467Glu
NM_001270448.2:c.1102A>G NP_001257377.1:p.Lys368Glu
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