Canonical Allele Identifier: CA16620600
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 418711
ClinVar RCV Id: RCV000479965 RCV001200830
dbSNP Id: rs1064793382
MyVariant Identifiers: chr17:g.7126129G>C (hg19) chr17:g.7222810G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222810G>C , CM000679.2:g.7222810G>C GRCh38
NC_000017.10:g.7126129G>C , CM000679.1:g.7126129G>C GRCh37
NC_000017.9:g.7066853G>C NCBI36
NG_007975.1:g.7977G>C
NG_008391.2:g.2241C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1022G>C MANE Select ENSP00000349297.5:p.Arg341Thr
ENST00000322910.9:c.*977G>C ENSP00000325395.5:n.*977G>C
ENST00000350303.9:c.956G>C ENSP00000344152.5:p.Arg319Thr
ENST00000356839.9:c.1022G>C ENSP00000349297.5:p.Arg341Thr
ENST00000543245.6:c.1091G>C ENSP00000438689.2:p.Arg364Thr
ENST00000578824.5:n.171G>C
ENST00000581378.5:c.740G>C
ENST00000582379.1:n.406G>C
ENST00000583858.5:c.51G>C
NM_000018.3:c.1022G>C NP_000009.1:p.Arg341Thr
NM_001033859.2:c.956G>C NP_001029031.1:p.Arg319Thr
NM_001270447.1:c.1091G>C NP_001257376.1:p.Arg364Thr
NM_001270448.1:c.794G>C NP_001257377.1:p.Arg265Thr
XM_006721516.2:c.1022G>C XP_006721579.2:p.Arg341Thr
XM_011523829.1:c.1022G>C XP_011522131.1:p.Arg341Thr
XM_011523830.1:c.1022G>C XP_011522132.1:p.Arg341Thr
XR_934021.1:n.1129G>C
XR_934022.1:n.1129G>C
XR_934023.1:n.1129G>C
XM_006721516.3:c.1022G>C XP_006721579.2:p.Arg341Thr
XM_011523829.2:c.1022G>C XP_011522131.1:p.Arg341Thr
XM_011523830.2:c.1022G>C XP_011522132.1:p.Arg341Thr
XM_024450741.1:c.1022G>C XP_024306509.1:p.Arg341Thr
XR_934021.2:n.1081G>C
XR_934022.2:n.1081G>C
XR_934023.2:n.1081G>C
NM_000018.4:c.1022G>C MANE Select NP_000009.1:p.Arg341Thr
NM_001033859.3:c.956G>C NP_001029031.1:p.Arg319Thr
NM_001270447.2:c.1091G>C NP_001257376.1:p.Arg364Thr
NM_001270448.2:c.794G>C NP_001257377.1:p.Arg265Thr
Search 100 bp 5'
Search 100 bp 3'