Canonical Allele Identifier: CA497694223
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127488G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224169G>A , CM000679.2:g.7224169G>A GRCh38
NC_000017.10:g.7127488G>A , CM000679.1:g.7127488G>A GRCh37
NC_000017.9:g.7068212G>A NCBI36
NG_007975.1:g.9336G>A
NG_008391.2:g.882C>T
NG_033038.1:g.15376C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1458G>A MANE Select ENSP00000349297.5:p.Gly486=
ENST00000322910.9:c.*1413G>A ENSP00000325395.5:n.*1413G>A
ENST00000350303.9:c.1392G>A ENSP00000344152.5:p.Gly464=
ENST00000356839.9:c.1458G>A ENSP00000349297.5:p.Gly486=
ENST00000542255.6:c.316G>A
ENST00000543245.6:c.1527G>A ENSP00000438689.2:p.Gly509=
ENST00000578711.1:n.665G>A
ENST00000579391.1:n.66G>A
ENST00000579425.5:n.574G>A
ENST00000579546.1:c.271+100G>A
ENST00000579894.5:n.245G>A
ENST00000583074.5:n.153+100G>A
ENST00000583850.5:n.233G>A
ENST00000583858.5:c.463+100G>A
ENST00000585203.6:n.649G>A
NM_000018.3:c.1458G>A NP_000009.1:p.Gly486=
NM_001033859.2:c.1392G>A NP_001029031.1:p.Gly464=
NM_001270447.1:c.1527G>A NP_001257376.1:p.Gly509=
NM_001270448.1:c.1230G>A NP_001257377.1:p.Gly410=
XM_006721516.2:c.1458G>A XP_006721579.2:p.Gly486=
XM_011523829.1:c.1434+100G>A XP_011522131.1:n.1434+100G>A
XM_011523830.1:c.1434+100G>A XP_011522132.1:n.1434+100G>A
XR_934021.1:n.1565G>A
XR_934022.1:n.1541+100G>A
XR_934023.1:n.1541+100G>A
XM_006721516.3:c.1458G>A XP_006721579.2:p.Gly486=
XM_011523829.2:c.1434+100G>A XP_011522131.1:n.1434+100G>A
XM_011523830.2:c.1434+100G>A XP_011522132.1:n.1434+100G>A
XM_024450741.1:c.1434+100G>A XP_024306509.1:n.1434+100G>A
XR_934021.2:n.1517G>A
XR_934022.2:n.1493+100G>A
XR_934023.2:n.1493+100G>A
NM_000018.4:c.1458G>A MANE Select NP_000009.1:p.Gly486=
NM_001033859.3:c.1392G>A NP_001029031.1:p.Gly464=
NM_001270447.2:c.1527G>A NP_001257376.1:p.Gly509=
NM_001270448.2:c.1230G>A NP_001257377.1:p.Gly410=
Search 100 bp 5'
Search 100 bp 3'