Canonical Allele Identifier: CA397724864
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127183G>T (hg19) chr17:g.7223864G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223864G>T , CM000679.2:g.7223864G>T GRCh38
NC_000017.10:g.7127183G>T , CM000679.1:g.7127183G>T GRCh37
NC_000017.9:g.7067907G>T NCBI36
NG_007975.1:g.9031G>T
NG_008391.2:g.1187C>A
NG_033038.1:g.15681C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1321G>T MANE Select ENSP00000349297.5:p.Gly441Cys
ENST00000322910.9:c.*1276G>T ENSP00000325395.5:n.*1276G>T
ENST00000350303.9:c.1255G>T ENSP00000344152.5:p.Gly419Cys
ENST00000356839.9:c.1321G>T ENSP00000349297.5:p.Gly441Cys
ENST00000542255.6:c.179G>T
ENST00000543245.6:c.1390G>T ENSP00000438689.2:p.Gly464Cys
ENST00000578711.1:n.360G>T
ENST00000579425.5:n.345G>T
ENST00000579546.1:c.158G>T
ENST00000583074.5:n.40G>T
ENST00000583850.5:n.96G>T
ENST00000583858.5:c.350G>T
ENST00000585203.6:n.523+6G>T
NM_000018.3:c.1321G>T NP_000009.1:p.Gly441Cys
NM_001033859.2:c.1255G>T NP_001029031.1:p.Gly419Cys
NM_001270447.1:c.1390G>T NP_001257376.1:p.Gly464Cys
NM_001270448.1:c.1093G>T NP_001257377.1:p.Gly365Cys
XM_006721516.2:c.1321G>T XP_006721579.2:p.Gly441Cys
XM_011523829.1:c.1321G>T XP_011522131.1:p.Gly441Cys
XM_011523830.1:c.1321G>T XP_011522132.1:p.Gly441Cys
XR_934021.1:n.1428G>T
XR_934022.1:n.1428G>T
XR_934023.1:n.1428G>T
XM_006721516.3:c.1321G>T XP_006721579.2:p.Gly441Cys
XM_011523829.2:c.1321G>T XP_011522131.1:p.Gly441Cys
XM_011523830.2:c.1321G>T XP_011522132.1:p.Gly441Cys
XM_024450741.1:c.1321G>T XP_024306509.1:p.Gly441Cys
XR_934021.2:n.1380G>T
XR_934022.2:n.1380G>T
XR_934023.2:n.1380G>T
NM_000018.4:c.1321G>T MANE Select NP_000009.1:p.Gly441Cys
NM_001033859.3:c.1255G>T NP_001029031.1:p.Gly419Cys
NM_001270447.2:c.1390G>T NP_001257376.1:p.Gly464Cys
NM_001270448.2:c.1093G>T NP_001257377.1:p.Gly365Cys
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