Canonical Allele Identifier: CA397723796
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125582C>A (hg19) chr17:g.7222263C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222263C>A , CM000679.2:g.7222263C>A GRCh38
NC_000017.10:g.7125582C>A , CM000679.1:g.7125582C>A GRCh37
NC_000017.9:g.7066306C>A NCBI36
NG_007975.1:g.7430C>A
NG_008391.2:g.2788G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.839C>A MANE Select ENSP00000349297.5:p.Thr280Lys
ENST00000322910.9:c.*794C>A ENSP00000325395.5:n.*794C>A
ENST00000350303.9:c.773C>A ENSP00000344152.5:p.Thr258Lys
ENST00000356839.9:c.839C>A ENSP00000349297.5:p.Thr280Lys
ENST00000543245.6:c.908C>A ENSP00000438689.2:p.Thr303Lys
ENST00000577191.5:n.1011C>A
ENST00000581378.5:c.557C>A
ENST00000582379.1:n.223C>A
NM_000018.3:c.839C>A NP_000009.1:p.Thr280Lys
NM_001033859.2:c.773C>A NP_001029031.1:p.Thr258Lys
NM_001270447.1:c.908C>A NP_001257376.1:p.Thr303Lys
NM_001270448.1:c.611C>A NP_001257377.1:p.Thr204Lys
XM_006721516.2:c.839C>A XP_006721579.2:p.Thr280Lys
XM_011523829.1:c.839C>A XP_011522131.1:p.Thr280Lys
XM_011523830.1:c.839C>A XP_011522132.1:p.Thr280Lys
XR_934021.1:n.946C>A
XR_934022.1:n.946C>A
XR_934023.1:n.946C>A
XM_006721516.3:c.839C>A XP_006721579.2:p.Thr280Lys
XM_011523829.2:c.839C>A XP_011522131.1:p.Thr280Lys
XM_011523830.2:c.839C>A XP_011522132.1:p.Thr280Lys
XM_024450741.1:c.839C>A XP_024306509.1:p.Thr280Lys
XR_934021.2:n.898C>A
XR_934022.2:n.898C>A
XR_934023.2:n.898C>A
NM_000018.4:c.839C>A MANE Select NP_000009.1:p.Thr280Lys
NM_001033859.3:c.773C>A NP_001029031.1:p.Thr258Lys
NM_001270447.2:c.908C>A NP_001257376.1:p.Thr303Lys
NM_001270448.2:c.611C>A NP_001257377.1:p.Thr204Lys
Search 100 bp 5'
Search 100 bp 3'