Canonical Allele Identifier: CA497694226
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127491T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224172T>A , CM000679.2:g.7224172T>A GRCh38
NC_000017.10:g.7127491T>A , CM000679.1:g.7127491T>A GRCh37
NC_000017.9:g.7068215T>A NCBI36
NG_007975.1:g.9339T>A
NG_008391.2:g.879A>T
NG_033038.1:g.15373A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1461T>A MANE Select ENSP00000349297.5:p.Leu487=
ENST00000322910.9:c.*1416T>A ENSP00000325395.5:n.*1416T>A
ENST00000350303.9:c.1395T>A ENSP00000344152.5:p.Leu465=
ENST00000356839.9:c.1461T>A ENSP00000349297.5:p.Leu487=
ENST00000542255.6:c.319T>A
ENST00000543245.6:c.1530T>A ENSP00000438689.2:p.Leu510=
ENST00000578711.1:n.668T>A
ENST00000579391.1:n.69T>A
ENST00000579425.5:n.577T>A
ENST00000579546.1:c.271+103T>A
ENST00000579894.5:n.248T>A
ENST00000583074.5:n.153+103T>A
ENST00000583850.5:n.236T>A
ENST00000583858.5:c.463+103T>A
ENST00000585203.6:n.652T>A
NM_000018.3:c.1461T>A NP_000009.1:p.Leu487=
NM_001033859.2:c.1395T>A NP_001029031.1:p.Leu465=
NM_001270447.1:c.1530T>A NP_001257376.1:p.Leu510=
NM_001270448.1:c.1233T>A NP_001257377.1:p.Leu411=
XM_006721516.2:c.1461T>A XP_006721579.2:p.Leu487=
XM_011523829.1:c.1434+103T>A XP_011522131.1:n.1434+103T>A
XM_011523830.1:c.1434+103T>A XP_011522132.1:n.1434+103T>A
XR_934021.1:n.1568T>A
XR_934022.1:n.1541+103T>A
XR_934023.1:n.1541+103T>A
XM_006721516.3:c.1461T>A XP_006721579.2:p.Leu487=
XM_011523829.2:c.1434+103T>A XP_011522131.1:n.1434+103T>A
XM_011523830.2:c.1434+103T>A XP_011522132.1:n.1434+103T>A
XM_024450741.1:c.1434+103T>A XP_024306509.1:n.1434+103T>A
XR_934021.2:n.1520T>A
XR_934022.2:n.1493+103T>A
XR_934023.2:n.1493+103T>A
NM_000018.4:c.1461T>A MANE Select NP_000009.1:p.Leu487=
NM_001033859.3:c.1395T>A NP_001029031.1:p.Leu465=
NM_001270447.2:c.1530T>A NP_001257376.1:p.Leu510=
NM_001270448.2:c.1233T>A NP_001257377.1:p.Leu411=
Search 100 bp 5'
Search 100 bp 3'