Canonical Allele Identifier: CA2580094751
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2135499
ClinVar RCV Id: RCV003066333
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222169T>C , CM000679.2:g.7222169T>C GRCh38
NC_000017.10:g.7125488T>C , CM000679.1:g.7125488T>C GRCh37
NC_000017.9:g.7066212T>C NCBI36
NG_007975.1:g.7336T>C
NG_008391.2:g.2882A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.753-8T>C MANE Select ENSP00000349297.5:n.753-8T>C
ENST00000322910.9:c.*708-8T>C ENSP00000325395.5:n.*708-8T>C
ENST00000350303.9:c.687-8T>C ENSP00000344152.5:n.687-8T>C
ENST00000356839.9:c.753-8T>C ENSP00000349297.5:n.753-8T>C
ENST00000543245.6:c.822-8T>C ENSP00000438689.2:n.822-8T>C
ENST00000577191.5:n.917T>C
ENST00000581378.5:c.471-8T>C
ENST00000582379.1:n.137-8T>C
NM_000018.3:c.753-8T>C NP_000009.1:n.753-8T>C
NM_001033859.2:c.687-8T>C NP_001029031.1:n.687-8T>C
NM_001270447.1:c.822-8T>C NP_001257376.1:n.822-8T>C
NM_001270448.1:c.525-8T>C NP_001257377.1:n.525-8T>C
XM_006721516.2:c.753-8T>C XP_006721579.2:n.753-8T>C
XM_011523829.1:c.753-8T>C XP_011522131.1:n.753-8T>C
XM_011523830.1:c.753-8T>C XP_011522132.1:n.753-8T>C
XR_934021.1:n.860-8T>C
XR_934022.1:n.860-8T>C
XR_934023.1:n.860-8T>C
XM_006721516.3:c.753-8T>C XP_006721579.2:n.753-8T>C
XM_011523829.2:c.753-8T>C XP_011522131.1:n.753-8T>C
XM_011523830.2:c.753-8T>C XP_011522132.1:n.753-8T>C
XM_024450741.1:c.753-8T>C XP_024306509.1:n.753-8T>C
XR_934021.2:n.812-8T>C
XR_934022.2:n.812-8T>C
XR_934023.2:n.812-8T>C
NM_000018.4:c.753-8T>C MANE Select NP_000009.1:n.753-8T>C
NM_001033859.3:c.687-8T>C NP_001029031.1:n.687-8T>C
NM_001270447.2:c.822-8T>C NP_001257376.1:n.822-8T>C
NM_001270448.2:c.525-8T>C NP_001257377.1:n.525-8T>C
Search 100 bp 5'
Search 100 bp 3'