Canonical Allele Identifier: CA397725368
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224344-T-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1556T>G MANE Select ENSP00000349297.5:p.Leu519Arg
ENST00000322910.9:c.*1511T>G ENSP00000325395.5:n.*1511T>G
ENST00000350303.9:c.1490T>G ENSP00000344152.5:p.Leu497Arg
ENST00000356839.9:c.1556T>G ENSP00000349297.5:p.Leu519Arg
ENST00000542255.6:c.414T>G
ENST00000543245.6:c.1625T>G ENSP00000438689.2:p.Leu542Arg
ENST00000578319.5:n.51T>G
ENST00000578711.1:n.840T>G
ENST00000578809.5:n.128T>G
ENST00000579391.1:n.164T>G
ENST00000579425.5:n.672T>G
ENST00000579546.1:c.295T>G
ENST00000579894.5:n.343T>G
ENST00000582450.1:n.64T>G
ENST00000583074.5:n.177T>G
ENST00000583850.5:n.331T>G
ENST00000583858.5:c.487T>G
ENST00000585203.6:n.747T>G
NM_000018.3:c.1556T>G NP_000009.1:p.Leu519Arg
NM_001033859.2:c.1490T>G NP_001029031.1:p.Leu497Arg
NM_001270447.1:c.1625T>G NP_001257376.1:p.Leu542Arg
NM_001270448.1:c.1328T>G NP_001257377.1:p.Leu443Arg
XM_006721516.2:c.1556T>G XP_006721579.2:p.Leu519Arg
XM_011523829.1:c.1458T>G XP_011522131.1:p.Pro486=
XM_011523830.1:c.1458T>G XP_011522132.1:p.Pro486=
XR_934021.1:n.1663T>G
XR_934022.1:n.1565T>G
XR_934023.1:n.1565T>G
XM_006721516.3:c.1556T>G XP_006721579.2:p.Leu519Arg
XM_011523829.2:c.1458T>G XP_011522131.1:p.Pro486=
XM_011523830.2:c.1458T>G XP_011522132.1:p.Pro486=
XM_024450741.1:c.1458T>G XP_024306509.1:p.Pro486=
XR_934021.2:n.1615T>G
XR_934022.2:n.1517T>G
XR_934023.2:n.1517T>G
NM_000018.4:c.1556T>G MANE Select NP_000009.1:p.Leu519Arg
NM_001033859.3:c.1490T>G NP_001029031.1:p.Leu497Arg
NM_001270447.2:c.1625T>G NP_001257376.1:p.Leu542Arg
NM_001270448.2:c.1328T>G NP_001257377.1:p.Leu443Arg