Canonical Allele Identifier: CA397723031
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071226494
gnomAD v3: 17-7221556-A-G
gnomAD v4: 17-7221556-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221556A>G , CM000679.2:g.7221556A>G GRCh38
NC_000017.10:g.7124875A>G , CM000679.1:g.7124875A>G GRCh37
NC_000017.9:g.7065599A>G NCBI36
NG_007975.1:g.6723A>G
NG_008391.2:g.3495T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.496A>G MANE Select ENSP00000349297.5:p.Ile166Val
ENST00000322910.9:c.*451A>G ENSP00000325395.5:n.*451A>G
ENST00000350303.9:c.430A>G ENSP00000344152.5:p.Ile144Val
ENST00000356839.9:c.496A>G ENSP00000349297.5:p.Ile166Val
ENST00000543245.6:c.565A>G ENSP00000438689.2:p.Ile189Val
ENST00000577191.5:n.573A>G
ENST00000577433.5:n.704A>G
ENST00000577857.5:n.312A>G
ENST00000579286.5:n.677A>G
ENST00000579886.2:c.334A>G ENSP00000463246.1:p.Ile112Val
ENST00000580365.1:n.227A>G
ENST00000581378.5:c.214A>G
ENST00000581562.5:n.525-396A>G
ENST00000582166.1:n.477A>G
ENST00000583312.5:c.496A>G ENSP00000467920.1:p.Ile166Val
ENST00000583760.1:n.278A>G
NM_000018.3:c.496A>G NP_000009.1:p.Ile166Val
NM_001033859.2:c.430A>G NP_001029031.1:p.Ile144Val
NM_001270447.1:c.565A>G NP_001257376.1:p.Ile189Val
NM_001270448.1:c.268A>G NP_001257377.1:p.Ile90Val
XM_006721516.2:c.496A>G XP_006721579.2:p.Ile166Val
XM_011523829.1:c.496A>G XP_011522131.1:p.Ile166Val
XM_011523830.1:c.496A>G XP_011522132.1:p.Ile166Val
XR_934021.1:n.603A>G
XR_934022.1:n.603A>G
XR_934023.1:n.603A>G
XM_006721516.3:c.496A>G XP_006721579.2:p.Ile166Val
XM_011523829.2:c.496A>G XP_011522131.1:p.Ile166Val
XM_011523830.2:c.496A>G XP_011522132.1:p.Ile166Val
XM_024450741.1:c.496A>G XP_024306509.1:p.Ile166Val
XR_934021.2:n.555A>G
XR_934022.2:n.555A>G
XR_934023.2:n.555A>G
NM_000018.4:c.496A>G MANE Select NP_000009.1:p.Ile166Val
NM_001033859.3:c.430A>G NP_001029031.1:p.Ile144Val
NM_001270447.2:c.565A>G NP_001257376.1:p.Ile189Val
NM_001270448.2:c.268A>G NP_001257377.1:p.Ile90Val