Canonical Allele Identifier: CA397723628
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1555528345
COSMIC: COSM6294176
MyVariant Identifiers: chr17:g.7125500G>T (hg19) chr17:g.7222181G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222181G>T , CM000679.2:g.7222181G>T GRCh38
NC_000017.10:g.7125500G>T , CM000679.1:g.7125500G>T GRCh37
NC_000017.9:g.7066224G>T NCBI36
NG_007975.1:g.7348G>T
NG_008391.2:g.2870C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.757G>T MANE Select ENSP00000349297.5:p.Gly253Trp
ENST00000322910.9:c.*712G>T ENSP00000325395.5:n.*712G>T
ENST00000350303.9:c.691G>T ENSP00000344152.5:p.Gly231Trp
ENST00000356839.9:c.757G>T ENSP00000349297.5:p.Gly253Trp
ENST00000543245.6:c.826G>T ENSP00000438689.2:p.Gly276Trp
ENST00000577191.5:n.929G>T
ENST00000581378.5:c.475G>T
ENST00000582379.1:n.141G>T
NM_000018.3:c.757G>T NP_000009.1:p.Gly253Trp
NM_001033859.2:c.691G>T NP_001029031.1:p.Gly231Trp
NM_001270447.1:c.826G>T NP_001257376.1:p.Gly276Trp
NM_001270448.1:c.529G>T NP_001257377.1:p.Gly177Trp
XM_006721516.2:c.757G>T XP_006721579.2:p.Gly253Trp
XM_011523829.1:c.757G>T XP_011522131.1:p.Gly253Trp
XM_011523830.1:c.757G>T XP_011522132.1:p.Gly253Trp
XR_934021.1:n.864G>T
XR_934022.1:n.864G>T
XR_934023.1:n.864G>T
XM_006721516.3:c.757G>T XP_006721579.2:p.Gly253Trp
XM_011523829.2:c.757G>T XP_011522131.1:p.Gly253Trp
XM_011523830.2:c.757G>T XP_011522132.1:p.Gly253Trp
XM_024450741.1:c.757G>T XP_024306509.1:p.Gly253Trp
XR_934021.2:n.816G>T
XR_934022.2:n.816G>T
XR_934023.2:n.816G>T
NM_000018.4:c.757G>T MANE Select NP_000009.1:p.Gly253Trp
NM_001033859.3:c.691G>T NP_001029031.1:p.Gly231Trp
NM_001270447.2:c.826G>T NP_001257376.1:p.Gly276Trp
NM_001270448.2:c.529G>T NP_001257377.1:p.Gly177Trp
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