Canonical Allele Identifier: CA397723779
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125575A>G (hg19) chr17:g.7222256A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222256A>G , CM000679.2:g.7222256A>G GRCh38
NC_000017.10:g.7125575A>G , CM000679.1:g.7125575A>G GRCh37
NC_000017.9:g.7066299A>G NCBI36
NG_007975.1:g.7423A>G
NG_008391.2:g.2795T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.832A>G MANE Select ENSP00000349297.5:p.Lys278Glu
ENST00000322910.9:c.*787A>G ENSP00000325395.5:n.*787A>G
ENST00000350303.9:c.766A>G ENSP00000344152.5:p.Lys256Glu
ENST00000356839.9:c.832A>G ENSP00000349297.5:p.Lys278Glu
ENST00000543245.6:c.901A>G ENSP00000438689.2:p.Lys301Glu
ENST00000577191.5:n.1004A>G
ENST00000581378.5:c.550A>G
ENST00000582379.1:n.216A>G
NM_000018.3:c.832A>G NP_000009.1:p.Lys278Glu
NM_001033859.2:c.766A>G NP_001029031.1:p.Lys256Glu
NM_001270447.1:c.901A>G NP_001257376.1:p.Lys301Glu
NM_001270448.1:c.604A>G NP_001257377.1:p.Lys202Glu
XM_006721516.2:c.832A>G XP_006721579.2:p.Lys278Glu
XM_011523829.1:c.832A>G XP_011522131.1:p.Lys278Glu
XM_011523830.1:c.832A>G XP_011522132.1:p.Lys278Glu
XR_934021.1:n.939A>G
XR_934022.1:n.939A>G
XR_934023.1:n.939A>G
XM_006721516.3:c.832A>G XP_006721579.2:p.Lys278Glu
XM_011523829.2:c.832A>G XP_011522131.1:p.Lys278Glu
XM_011523830.2:c.832A>G XP_011522132.1:p.Lys278Glu
XM_024450741.1:c.832A>G XP_024306509.1:p.Lys278Glu
XR_934021.2:n.891A>G
XR_934022.2:n.891A>G
XR_934023.2:n.891A>G
NM_000018.4:c.832A>G MANE Select NP_000009.1:p.Lys278Glu
NM_001033859.3:c.766A>G NP_001029031.1:p.Lys256Glu
NM_001270447.2:c.901A>G NP_001257376.1:p.Lys301Glu
NM_001270448.2:c.604A>G NP_001257377.1:p.Lys202Glu
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