Canonical Allele Identifier: CA497694320
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127539A>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224220A>T , CM000679.2:g.7224220A>T GRCh38
NC_000017.10:g.7127539A>T , CM000679.1:g.7127539A>T GRCh37
NC_000017.9:g.7068263A>T NCBI36
NG_007975.1:g.9387A>T
NG_008391.2:g.831T>A
NG_033038.1:g.15325T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1509A>T MANE Select ENSP00000349297.5:p.Gly503=
ENST00000322910.9:c.*1464A>T ENSP00000325395.5:n.*1464A>T
ENST00000350303.9:c.1443A>T ENSP00000344152.5:p.Gly481=
ENST00000356839.9:c.1509A>T ENSP00000349297.5:p.Gly503=
ENST00000542255.6:c.367A>T
ENST00000543245.6:c.1578A>T ENSP00000438689.2:p.Gly526=
ENST00000578319.5:n.4A>T
ENST00000578711.1:n.716A>T
ENST00000578809.5:n.4A>T
ENST00000579391.1:n.117A>T
ENST00000579425.5:n.625A>T
ENST00000579546.1:c.272-101A>T
ENST00000579894.5:n.296A>T
ENST00000583074.5:n.154-101A>T
ENST00000583850.5:n.284A>T
ENST00000583858.5:c.464-101A>T
ENST00000585203.6:n.700A>T
NM_000018.3:c.1509A>T NP_000009.1:p.Gly503=
NM_001033859.2:c.1443A>T NP_001029031.1:p.Gly481=
NM_001270447.1:c.1578A>T NP_001257376.1:p.Gly526=
NM_001270448.1:c.1281A>T NP_001257377.1:p.Gly427=
XM_006721516.2:c.1509A>T XP_006721579.2:p.Gly503=
XM_011523829.1:c.1435-101A>T XP_011522131.1:n.1435-101A>T
XM_011523830.1:c.1435-101A>T XP_011522132.1:n.1435-101A>T
XR_934021.1:n.1616A>T
XR_934022.1:n.1542-101A>T
XR_934023.1:n.1542-101A>T
XM_006721516.3:c.1509A>T XP_006721579.2:p.Gly503=
XM_011523829.2:c.1435-101A>T XP_011522131.1:n.1435-101A>T
XM_011523830.2:c.1435-101A>T XP_011522132.1:n.1435-101A>T
XM_024450741.1:c.1435-101A>T XP_024306509.1:n.1435-101A>T
XR_934021.2:n.1568A>T
XR_934022.2:n.1494-101A>T
XR_934023.2:n.1494-101A>T
NM_000018.4:c.1509A>T MANE Select NP_000009.1:p.Gly503=
NM_001033859.3:c.1443A>T NP_001029031.1:p.Gly481=
NM_001270447.2:c.1578A>T NP_001257376.1:p.Gly526=
NM_001270448.2:c.1281A>T NP_001257377.1:p.Gly427=
Search 100 bp 5'
Search 100 bp 3'