Canonical Allele Identifier: CA397725343
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224331-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224331C>G , CM000679.2:g.7224331C>G GRCh38
NC_000017.10:g.7127650C>G , CM000679.1:g.7127650C>G GRCh37
NC_000017.9:g.7068374C>G NCBI36
NG_007975.1:g.9498C>G
NG_008391.2:g.720G>C
NG_033038.1:g.15214G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1543C>G MANE Select ENSP00000349297.5:p.Leu515Val
ENST00000322910.9:c.*1498C>G ENSP00000325395.5:n.*1498C>G
ENST00000350303.9:c.1477C>G ENSP00000344152.5:p.Leu493Val
ENST00000356839.9:c.1543C>G ENSP00000349297.5:p.Leu515Val
ENST00000542255.6:c.401C>G
ENST00000543245.6:c.1612C>G ENSP00000438689.2:p.Leu538Val
ENST00000578319.5:n.38C>G
ENST00000578711.1:n.827C>G
ENST00000578809.5:n.115C>G
ENST00000579391.1:n.151C>G
ENST00000579425.5:n.659C>G
ENST00000579546.1:c.282C>G
ENST00000579894.5:n.330C>G
ENST00000582450.1:n.51C>G
ENST00000583074.5:n.164C>G
ENST00000583850.5:n.318C>G
ENST00000583858.5:c.474C>G
ENST00000585203.6:n.734C>G
NM_000018.3:c.1543C>G NP_000009.1:p.Leu515Val
NM_001033859.2:c.1477C>G NP_001029031.1:p.Leu493Val
NM_001270447.1:c.1612C>G NP_001257376.1:p.Leu538Val
NM_001270448.1:c.1315C>G NP_001257377.1:p.Leu439Val
XM_006721516.2:c.1543C>G XP_006721579.2:p.Leu515Val
XM_011523829.1:c.1445C>G XP_011522131.1:p.Ala482Gly
XM_011523830.1:c.1445C>G XP_011522132.1:p.Ala482Gly
XR_934021.1:n.1650C>G
XR_934022.1:n.1552C>G
XR_934023.1:n.1552C>G
XM_006721516.3:c.1543C>G XP_006721579.2:p.Leu515Val
XM_011523829.2:c.1445C>G XP_011522131.1:p.Ala482Gly
XM_011523830.2:c.1445C>G XP_011522132.1:p.Ala482Gly
XM_024450741.1:c.1445C>G XP_024306509.1:p.Ala482Gly
XR_934021.2:n.1602C>G
XR_934022.2:n.1504C>G
XR_934023.2:n.1504C>G
NM_000018.4:c.1543C>G MANE Select NP_000009.1:p.Leu515Val
NM_001033859.3:c.1477C>G NP_001029031.1:p.Leu493Val
NM_001270447.2:c.1612C>G NP_001257376.1:p.Leu538Val
NM_001270448.2:c.1315C>G NP_001257377.1:p.Leu439Val