Canonical Allele Identifier: CA397725344
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224332-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224332T>C , CM000679.2:g.7224332T>C GRCh38
NC_000017.10:g.7127651T>C , CM000679.1:g.7127651T>C GRCh37
NC_000017.9:g.7068375T>C NCBI36
NG_007975.1:g.9499T>C
NG_008391.2:g.719A>G
NG_033038.1:g.15213A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1544T>C MANE Select ENSP00000349297.5:p.Leu515Pro
ENST00000322910.9:c.*1499T>C ENSP00000325395.5:n.*1499T>C
ENST00000350303.9:c.1478T>C ENSP00000344152.5:p.Leu493Pro
ENST00000356839.9:c.1544T>C ENSP00000349297.5:p.Leu515Pro
ENST00000542255.6:c.402T>C
ENST00000543245.6:c.1613T>C ENSP00000438689.2:p.Leu538Pro
ENST00000578319.5:n.39T>C
ENST00000578711.1:n.828T>C
ENST00000578809.5:n.116T>C
ENST00000579391.1:n.152T>C
ENST00000579425.5:n.660T>C
ENST00000579546.1:c.283T>C
ENST00000579894.5:n.331T>C
ENST00000582450.1:n.52T>C
ENST00000583074.5:n.165T>C
ENST00000583850.5:n.319T>C
ENST00000583858.5:c.475T>C
ENST00000585203.6:n.735T>C
NM_000018.3:c.1544T>C NP_000009.1:p.Leu515Pro
NM_001033859.2:c.1478T>C NP_001029031.1:p.Leu493Pro
NM_001270447.1:c.1613T>C NP_001257376.1:p.Leu538Pro
NM_001270448.1:c.1316T>C NP_001257377.1:p.Leu439Pro
XM_006721516.2:c.1544T>C XP_006721579.2:p.Leu515Pro
XM_011523829.1:c.1446T>C XP_011522131.1:p.Ala482=
XM_011523830.1:c.1446T>C XP_011522132.1:p.Ala482=
XR_934021.1:n.1651T>C
XR_934022.1:n.1553T>C
XR_934023.1:n.1553T>C
XM_006721516.3:c.1544T>C XP_006721579.2:p.Leu515Pro
XM_011523829.2:c.1446T>C XP_011522131.1:p.Ala482=
XM_011523830.2:c.1446T>C XP_011522132.1:p.Ala482=
XM_024450741.1:c.1446T>C XP_024306509.1:p.Ala482=
XR_934021.2:n.1603T>C
XR_934022.2:n.1505T>C
XR_934023.2:n.1505T>C
NM_000018.4:c.1544T>C MANE Select NP_000009.1:p.Leu515Pro
NM_001033859.3:c.1478T>C NP_001029031.1:p.Leu493Pro
NM_001270447.2:c.1613T>C NP_001257376.1:p.Leu538Pro
NM_001270448.2:c.1316T>C NP_001257377.1:p.Leu439Pro