Canonical Allele Identifier: CA397723644
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125509G>A (hg19) chr17:g.7222190G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222190G>A , CM000679.2:g.7222190G>A GRCh38
NC_000017.10:g.7125509G>A , CM000679.1:g.7125509G>A GRCh37
NC_000017.9:g.7066233G>A NCBI36
NG_007975.1:g.7357G>A
NG_008391.2:g.2861C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.766G>A MANE Select ENSP00000349297.5:p.Ala256Thr
ENST00000322910.9:c.*721G>A ENSP00000325395.5:n.*721G>A
ENST00000350303.9:c.700G>A ENSP00000344152.5:p.Ala234Thr
ENST00000356839.9:c.766G>A ENSP00000349297.5:p.Ala256Thr
ENST00000543245.6:c.835G>A ENSP00000438689.2:p.Ala279Thr
ENST00000577191.5:n.938G>A
ENST00000581378.5:c.484G>A
ENST00000582379.1:n.150G>A
NM_000018.3:c.766G>A NP_000009.1:p.Ala256Thr
NM_001033859.2:c.700G>A NP_001029031.1:p.Ala234Thr
NM_001270447.1:c.835G>A NP_001257376.1:p.Ala279Thr
NM_001270448.1:c.538G>A NP_001257377.1:p.Ala180Thr
XM_006721516.2:c.766G>A XP_006721579.2:p.Ala256Thr
XM_011523829.1:c.766G>A XP_011522131.1:p.Ala256Thr
XM_011523830.1:c.766G>A XP_011522132.1:p.Ala256Thr
XR_934021.1:n.873G>A
XR_934022.1:n.873G>A
XR_934023.1:n.873G>A
XM_006721516.3:c.766G>A XP_006721579.2:p.Ala256Thr
XM_011523829.2:c.766G>A XP_011522131.1:p.Ala256Thr
XM_011523830.2:c.766G>A XP_011522132.1:p.Ala256Thr
XM_024450741.1:c.766G>A XP_024306509.1:p.Ala256Thr
XR_934021.2:n.825G>A
XR_934022.2:n.825G>A
XR_934023.2:n.825G>A
NM_000018.4:c.766G>A MANE Select NP_000009.1:p.Ala256Thr
NM_001033859.3:c.700G>A NP_001029031.1:p.Ala234Thr
NM_001270447.2:c.835G>A NP_001257376.1:p.Ala279Thr
NM_001270448.2:c.538G>A NP_001257377.1:p.Ala180Thr
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