Canonical Allele Identifier: CA397722389
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220634A>T , CM000679.2:g.7220634A>T GRCh38
NC_000017.10:g.7123953A>T , CM000679.1:g.7123953A>T GRCh37
NC_000017.9:g.7064677A>T NCBI36
NG_007975.1:g.5801A>T
NG_008391.2:g.4417T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.235A>T MANE Select ENSP00000349297.5:p.Lys79Ter
ENST00000322910.9:c.*190A>T ENSP00000325395.5:n.*190A>T
ENST00000350303.9:c.169A>T ENSP00000344152.5:p.Lys57Ter
ENST00000356839.9:c.235A>T ENSP00000349297.5:p.Lys79Ter
ENST00000543245.6:c.304A>T ENSP00000438689.2:p.Lys102Ter
ENST00000577191.5:n.312A>T
ENST00000577433.5:n.443A>T
ENST00000577857.5:n.229-132A>T
ENST00000578269.5:n.682A>T
ENST00000578421.1:n.443A>T
ENST00000579286.5:n.416A>T
ENST00000579886.2:c.201+108A>T ENSP00000463246.1:n.201+108A>T
ENST00000580263.5:n.399A>T
ENST00000581562.5:n.282A>T
ENST00000582056.5:n.325A>T
ENST00000582166.1:n.123A>T
ENST00000582356.5:n.434A>T
ENST00000583312.5:c.235A>T ENSP00000467920.1:p.Lys79Ter
ENST00000584103.5:c.235A>T ENSP00000465353.1:p.Lys79Ter
NM_000018.3:c.235A>T NP_000009.1:p.Lys79Ter
NM_001033859.2:c.169A>T NP_001029031.1:p.Lys57Ter
NM_001270447.1:c.304A>T NP_001257376.1:p.Lys102Ter
NM_001270448.1:c.7A>T NP_001257377.1:p.Lys3Ter
XM_006721516.2:c.235A>T XP_006721579.2:p.Lys79Ter
XM_011523829.1:c.235A>T XP_011522131.1:p.Lys79Ter
XM_011523830.1:c.235A>T XP_011522132.1:p.Lys79Ter
XR_934021.1:n.342A>T
XR_934022.1:n.342A>T
XR_934023.1:n.342A>T
XM_006721516.3:c.235A>T XP_006721579.2:p.Lys79Ter
XM_011523829.2:c.235A>T XP_011522131.1:p.Lys79Ter
XM_011523830.2:c.235A>T XP_011522132.1:p.Lys79Ter
XM_024450741.1:c.235A>T XP_024306509.1:p.Lys79Ter
XR_934021.2:n.294A>T
XR_934022.2:n.294A>T
XR_934023.2:n.294A>T
NM_000018.4:c.235A>T MANE Select NP_000009.1:p.Lys79Ter
NM_001033859.3:c.169A>T NP_001029031.1:p.Lys57Ter
NM_001270447.2:c.304A>T NP_001257376.1:p.Lys102Ter
NM_001270448.2:c.7A>T NP_001257377.1:p.Lys3Ter