Canonical Allele Identifier: CA397722391
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220635A>C , CM000679.2:g.7220635A>C GRCh38
NC_000017.10:g.7123954A>C , CM000679.1:g.7123954A>C GRCh37
NC_000017.9:g.7064678A>C NCBI36
NG_007975.1:g.5802A>C
NG_008391.2:g.4416T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.236A>C MANE Select ENSP00000349297.5:p.Lys79Thr
ENST00000322910.9:c.*191A>C ENSP00000325395.5:n.*191A>C
ENST00000350303.9:c.170A>C ENSP00000344152.5:p.Lys57Thr
ENST00000356839.9:c.236A>C ENSP00000349297.5:p.Lys79Thr
ENST00000543245.6:c.305A>C ENSP00000438689.2:p.Lys102Thr
ENST00000577191.5:n.313A>C
ENST00000577433.5:n.444A>C
ENST00000577857.5:n.229-131A>C
ENST00000578269.5:n.683A>C
ENST00000578421.1:n.444A>C
ENST00000579286.5:n.417A>C
ENST00000579886.2:c.201+109A>C ENSP00000463246.1:n.201+109A>C
ENST00000580263.5:n.400A>C
ENST00000581562.5:n.283A>C
ENST00000582056.5:n.326A>C
ENST00000582166.1:n.124A>C
ENST00000582356.5:n.435A>C
ENST00000583312.5:c.236A>C ENSP00000467920.1:p.Lys79Thr
ENST00000584103.5:c.236A>C ENSP00000465353.1:p.Lys79Thr
NM_000018.3:c.236A>C NP_000009.1:p.Lys79Thr
NM_001033859.2:c.170A>C NP_001029031.1:p.Lys57Thr
NM_001270447.1:c.305A>C NP_001257376.1:p.Lys102Thr
NM_001270448.1:c.8A>C NP_001257377.1:p.Lys3Thr
XM_006721516.2:c.236A>C XP_006721579.2:p.Lys79Thr
XM_011523829.1:c.236A>C XP_011522131.1:p.Lys79Thr
XM_011523830.1:c.236A>C XP_011522132.1:p.Lys79Thr
XR_934021.1:n.343A>C
XR_934022.1:n.343A>C
XR_934023.1:n.343A>C
XM_006721516.3:c.236A>C XP_006721579.2:p.Lys79Thr
XM_011523829.2:c.236A>C XP_011522131.1:p.Lys79Thr
XM_011523830.2:c.236A>C XP_011522132.1:p.Lys79Thr
XM_024450741.1:c.236A>C XP_024306509.1:p.Lys79Thr
XR_934021.2:n.295A>C
XR_934022.2:n.295A>C
XR_934023.2:n.295A>C
NM_000018.4:c.236A>C MANE Select NP_000009.1:p.Lys79Thr
NM_001033859.3:c.170A>C NP_001029031.1:p.Lys57Thr
NM_001270447.2:c.305A>C NP_001257376.1:p.Lys102Thr
NM_001270448.2:c.8A>C NP_001257377.1:p.Lys3Thr