Canonical Allele Identifier: CA397724628
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127000G>T (hg19) chr17:g.7223681G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223681G>T , CM000679.2:g.7223681G>T GRCh38
NC_000017.10:g.7127000G>T , CM000679.1:g.7127000G>T GRCh37
NC_000017.9:g.7067724G>T NCBI36
NG_007975.1:g.8848G>T
NG_008391.2:g.1370C>A
NG_033038.1:g.15864C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1220G>T MANE Select ENSP00000349297.5:p.Gly407Val
ENST00000322910.9:c.*1175G>T ENSP00000325395.5:n.*1175G>T
ENST00000350303.9:c.1154G>T ENSP00000344152.5:p.Gly385Val
ENST00000356839.9:c.1220G>T ENSP00000349297.5:p.Gly407Val
ENST00000542255.6:c.78G>T
ENST00000543245.6:c.1289G>T ENSP00000438689.2:p.Gly430Val
ENST00000578579.2:n.391G>T
ENST00000578711.1:n.177G>T
ENST00000578824.5:n.636G>T
ENST00000579425.5:n.244G>T
ENST00000579546.1:c.57G>T
ENST00000583858.5:c.249G>T
ENST00000585203.6:n.428G>T
NM_000018.3:c.1220G>T NP_000009.1:p.Gly407Val
NM_001033859.2:c.1154G>T NP_001029031.1:p.Gly385Val
NM_001270447.1:c.1289G>T NP_001257376.1:p.Gly430Val
NM_001270448.1:c.992G>T NP_001257377.1:p.Gly331Val
XM_006721516.2:c.1220G>T XP_006721579.2:p.Gly407Val
XM_011523829.1:c.1220G>T XP_011522131.1:p.Gly407Val
XM_011523830.1:c.1220G>T XP_011522132.1:p.Gly407Val
XR_934021.1:n.1327G>T
XR_934022.1:n.1327G>T
XR_934023.1:n.1327G>T
XM_006721516.3:c.1220G>T XP_006721579.2:p.Gly407Val
XM_011523829.2:c.1220G>T XP_011522131.1:p.Gly407Val
XM_011523830.2:c.1220G>T XP_011522132.1:p.Gly407Val
XM_024450741.1:c.1220G>T XP_024306509.1:p.Gly407Val
XR_934021.2:n.1279G>T
XR_934022.2:n.1279G>T
XR_934023.2:n.1279G>T
NM_000018.4:c.1220G>T MANE Select NP_000009.1:p.Gly407Val
NM_001033859.3:c.1154G>T NP_001029031.1:p.Gly385Val
NM_001270447.2:c.1289G>T NP_001257376.1:p.Gly430Val
NM_001270448.2:c.992G>T NP_001257377.1:p.Gly331Val
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