Canonical Allele Identifier: CA397723823
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222277-G-T
MyVariant Identifiers: chr17:g.7125596G>T (hg19) chr17:g.7222277G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222277G>T , CM000679.2:g.7222277G>T GRCh38
NC_000017.10:g.7125596G>T , CM000679.1:g.7125596G>T GRCh37
NC_000017.9:g.7066320G>T NCBI36
NG_007975.1:g.7444G>T
NG_008391.2:g.2774C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.853G>T MANE Select ENSP00000349297.5:p.Glu285Ter
ENST00000322910.9:c.*808G>T ENSP00000325395.5:n.*808G>T
ENST00000350303.9:c.787G>T ENSP00000344152.5:p.Glu263Ter
ENST00000356839.9:c.853G>T ENSP00000349297.5:p.Glu285Ter
ENST00000543245.6:c.922G>T ENSP00000438689.2:p.Glu308Ter
ENST00000577191.5:n.1025G>T
ENST00000581378.5:c.571G>T
ENST00000582379.1:n.237G>T
NM_000018.3:c.853G>T NP_000009.1:p.Glu285Ter
NM_001033859.2:c.787G>T NP_001029031.1:p.Glu263Ter
NM_001270447.1:c.922G>T NP_001257376.1:p.Glu308Ter
NM_001270448.1:c.625G>T NP_001257377.1:p.Glu209Ter
XM_006721516.2:c.853G>T XP_006721579.2:p.Glu285Ter
XM_011523829.1:c.853G>T XP_011522131.1:p.Glu285Ter
XM_011523830.1:c.853G>T XP_011522132.1:p.Glu285Ter
XR_934021.1:n.960G>T
XR_934022.1:n.960G>T
XR_934023.1:n.960G>T
XM_006721516.3:c.853G>T XP_006721579.2:p.Glu285Ter
XM_011523829.2:c.853G>T XP_011522131.1:p.Glu285Ter
XM_011523830.2:c.853G>T XP_011522132.1:p.Glu285Ter
XM_024450741.1:c.853G>T XP_024306509.1:p.Glu285Ter
XR_934021.2:n.912G>T
XR_934022.2:n.912G>T
XR_934023.2:n.912G>T
NM_000018.4:c.853G>T MANE Select NP_000009.1:p.Glu285Ter
NM_001033859.3:c.787G>T NP_001029031.1:p.Glu263Ter
NM_001270447.2:c.922G>T NP_001257376.1:p.Glu308Ter
NM_001270448.2:c.625G>T NP_001257377.1:p.Glu209Ter
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