Canonical Allele Identifier: CA397725367
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224344T>C , CM000679.2:g.7224344T>C GRCh38
NC_000017.10:g.7127663T>C , CM000679.1:g.7127663T>C GRCh37
NC_000017.9:g.7068387T>C NCBI36
NG_007975.1:g.9511T>C
NG_008391.2:g.707A>G
NG_033038.1:g.15201A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1556T>C MANE Select ENSP00000349297.5:p.Leu519Pro
ENST00000322910.9:c.*1511T>C ENSP00000325395.5:n.*1511T>C
ENST00000350303.9:c.1490T>C ENSP00000344152.5:p.Leu497Pro
ENST00000356839.9:c.1556T>C ENSP00000349297.5:p.Leu519Pro
ENST00000542255.6:c.414T>C
ENST00000543245.6:c.1625T>C ENSP00000438689.2:p.Leu542Pro
ENST00000578319.5:n.51T>C
ENST00000578711.1:n.840T>C
ENST00000578809.5:n.128T>C
ENST00000579391.1:n.164T>C
ENST00000579425.5:n.672T>C
ENST00000579546.1:c.295T>C
ENST00000579894.5:n.343T>C
ENST00000582450.1:n.64T>C
ENST00000583074.5:n.177T>C
ENST00000583850.5:n.331T>C
ENST00000583858.5:c.487T>C
ENST00000585203.6:n.747T>C
NM_000018.3:c.1556T>C NP_000009.1:p.Leu519Pro
NM_001033859.2:c.1490T>C NP_001029031.1:p.Leu497Pro
NM_001270447.1:c.1625T>C NP_001257376.1:p.Leu542Pro
NM_001270448.1:c.1328T>C NP_001257377.1:p.Leu443Pro
XM_006721516.2:c.1556T>C XP_006721579.2:p.Leu519Pro
XM_011523829.1:c.1458T>C XP_011522131.1:p.Pro486=
XM_011523830.1:c.1458T>C XP_011522132.1:p.Pro486=
XR_934021.1:n.1663T>C
XR_934022.1:n.1565T>C
XR_934023.1:n.1565T>C
XM_006721516.3:c.1556T>C XP_006721579.2:p.Leu519Pro
XM_011523829.2:c.1458T>C XP_011522131.1:p.Pro486=
XM_011523830.2:c.1458T>C XP_011522132.1:p.Pro486=
XM_024450741.1:c.1458T>C XP_024306509.1:p.Pro486=
XR_934021.2:n.1615T>C
XR_934022.2:n.1517T>C
XR_934023.2:n.1517T>C
NM_000018.4:c.1556T>C MANE Select NP_000009.1:p.Leu519Pro
NM_001033859.3:c.1490T>C NP_001029031.1:p.Leu497Pro
NM_001270447.2:c.1625T>C NP_001257376.1:p.Leu542Pro
NM_001270448.2:c.1328T>C NP_001257377.1:p.Leu443Pro