Canonical Allele Identifier: CA397722620
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7220828-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220828G>T , CM000679.2:g.7220828G>T GRCh38
NC_000017.10:g.7124147G>T , CM000679.1:g.7124147G>T GRCh37
NC_000017.9:g.7064871G>T NCBI36
NG_007975.1:g.5995G>T
NG_008391.2:g.4223C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.340G>T MANE Select ENSP00000349297.5:p.Glu114Ter
ENST00000322910.9:c.*295G>T ENSP00000325395.5:n.*295G>T
ENST00000350303.9:c.274G>T ENSP00000344152.5:p.Glu92Ter
ENST00000356839.9:c.340G>T ENSP00000349297.5:p.Glu114Ter
ENST00000543245.6:c.409G>T ENSP00000438689.2:p.Glu137Ter
ENST00000577191.5:n.417G>T
ENST00000577433.5:n.548G>T
ENST00000577857.5:n.291G>T
ENST00000579286.5:n.521G>T
ENST00000579886.2:c.202-117G>T ENSP00000463246.1:n.202-117G>T
ENST00000580365.1:n.71G>T
ENST00000581378.5:c.39G>T
ENST00000581562.5:n.387G>T
ENST00000582056.5:n.430G>T
ENST00000582166.1:n.228G>T
ENST00000582356.5:n.539G>T
ENST00000583312.5:c.340G>T ENSP00000467920.1:p.Glu114Ter
ENST00000584103.5:c.340G>T ENSP00000465353.1:p.Glu114Ter
NM_000018.3:c.340G>T NP_000009.1:p.Glu114Ter
NM_001033859.2:c.274G>T NP_001029031.1:p.Glu92Ter
NM_001270447.1:c.409G>T NP_001257376.1:p.Glu137Ter
NM_001270448.1:c.112G>T NP_001257377.1:p.Glu38Ter
XM_006721516.2:c.340G>T XP_006721579.2:p.Glu114Ter
XM_011523829.1:c.340G>T XP_011522131.1:p.Glu114Ter
XM_011523830.1:c.340G>T XP_011522132.1:p.Glu114Ter
XR_934021.1:n.447G>T
XR_934022.1:n.447G>T
XR_934023.1:n.447G>T
XM_006721516.3:c.340G>T XP_006721579.2:p.Glu114Ter
XM_011523829.2:c.340G>T XP_011522131.1:p.Glu114Ter
XM_011523830.2:c.340G>T XP_011522132.1:p.Glu114Ter
XM_024450741.1:c.340G>T XP_024306509.1:p.Glu114Ter
XR_934021.2:n.399G>T
XR_934022.2:n.399G>T
XR_934023.2:n.399G>T
NM_000018.4:c.340G>T MANE Select NP_000009.1:p.Glu114Ter
NM_001033859.3:c.274G>T NP_001029031.1:p.Glu92Ter
NM_001270447.2:c.409G>T NP_001257376.1:p.Glu137Ter
NM_001270448.2:c.112G>T NP_001257377.1:p.Glu38Ter