Canonical Allele Identifier: CA397723845
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222287-T-C
MyVariant Identifiers: chr17:g.7125606T>C (hg19) chr17:g.7222287T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222287T>C , CM000679.2:g.7222287T>C GRCh38
NC_000017.10:g.7125606T>C , CM000679.1:g.7125606T>C GRCh37
NC_000017.9:g.7066330T>C NCBI36
NG_007975.1:g.7454T>C
NG_008391.2:g.2764A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.863T>C MANE Select ENSP00000349297.5:p.Phe288Ser
ENST00000322910.9:c.*818T>C ENSP00000325395.5:n.*818T>C
ENST00000350303.9:c.797T>C ENSP00000344152.5:p.Phe266Ser
ENST00000356839.9:c.863T>C ENSP00000349297.5:p.Phe288Ser
ENST00000543245.6:c.932T>C ENSP00000438689.2:p.Phe311Ser
ENST00000577191.5:n.1035T>C
ENST00000581378.5:c.581T>C
ENST00000582379.1:n.247T>C
NM_000018.3:c.863T>C NP_000009.1:p.Phe288Ser
NM_001033859.2:c.797T>C NP_001029031.1:p.Phe266Ser
NM_001270447.1:c.932T>C NP_001257376.1:p.Phe311Ser
NM_001270448.1:c.635T>C NP_001257377.1:p.Phe212Ser
XM_006721516.2:c.863T>C XP_006721579.2:p.Phe288Ser
XM_011523829.1:c.863T>C XP_011522131.1:p.Phe288Ser
XM_011523830.1:c.863T>C XP_011522132.1:p.Phe288Ser
XR_934021.1:n.970T>C
XR_934022.1:n.970T>C
XR_934023.1:n.970T>C
XM_006721516.3:c.863T>C XP_006721579.2:p.Phe288Ser
XM_011523829.2:c.863T>C XP_011522131.1:p.Phe288Ser
XM_011523830.2:c.863T>C XP_011522132.1:p.Phe288Ser
XM_024450741.1:c.863T>C XP_024306509.1:p.Phe288Ser
XR_934021.2:n.922T>C
XR_934022.2:n.922T>C
XR_934023.2:n.922T>C
NM_000018.4:c.863T>C MANE Select NP_000009.1:p.Phe288Ser
NM_001033859.3:c.797T>C NP_001029031.1:p.Phe266Ser
NM_001270447.2:c.932T>C NP_001257376.1:p.Phe311Ser
NM_001270448.2:c.635T>C NP_001257377.1:p.Phe212Ser
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