Canonical Allele Identifier: CA16041868
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 370279
ClinVar RCV Id: RCV000411047 RCV001090638
dbSNP Id: rs1057516370
gnomAD v4: 17-7222867-T-C
MyVariant Identifiers: chr17:g.7126186T>C (hg19) chr17:g.7222867T>C (hg38)
ERepo: CA16041868/MONDO:0008723/021
PubMed: PMID:9973285 PMID:25338548
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222867T>C , CM000679.2:g.7222867T>C GRCh38
NC_000017.10:g.7126186T>C , CM000679.1:g.7126186T>C GRCh37
NC_000017.9:g.7066910T>C NCBI36
NG_007975.1:g.8034T>C
NG_008391.2:g.2184A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1077+2T>C MANE Select ENSP00000349297.5:n.1077+2T>C
ENST00000322910.9:c.*1032+2T>C ENSP00000325395.5:n.*1032+2T>C
ENST00000350303.9:c.1011+2T>C ENSP00000344152.5:n.1011+2T>C
ENST00000356839.9:c.1077+2T>C ENSP00000349297.5:n.1077+2T>C
ENST00000543245.6:c.1146+2T>C ENSP00000438689.2:n.1146+2T>C
ENST00000578824.5:n.228T>C
ENST00000582379.1:n.463T>C
ENST00000583858.5:c.106+2T>C
ENST00000585203.6:n.20T>C
NM_000018.3:c.1077+2T>C NP_000009.1:n.1077+2T>C
NM_001033859.2:c.1011+2T>C NP_001029031.1:n.1011+2T>C
NM_001270447.1:c.1146+2T>C NP_001257376.1:n.1146+2T>C
NM_001270448.1:c.849+2T>C NP_001257377.1:n.849+2T>C
XM_006721516.2:c.1077+2T>C XP_006721579.2:n.1077+2T>C
XM_011523829.1:c.1077+2T>C XP_011522131.1:n.1077+2T>C
XM_011523830.1:c.1077+2T>C XP_011522132.1:n.1077+2T>C
XR_934021.1:n.1184+2T>C
XR_934022.1:n.1184+2T>C
XR_934023.1:n.1184+2T>C
XM_006721516.3:c.1077+2T>C XP_006721579.2:n.1077+2T>C
XM_011523829.2:c.1077+2T>C XP_011522131.1:n.1077+2T>C
XM_011523830.2:c.1077+2T>C XP_011522132.1:n.1077+2T>C
XM_024450741.1:c.1077+2T>C XP_024306509.1:n.1077+2T>C
XR_934021.2:n.1136+2T>C
XR_934022.2:n.1136+2T>C
XR_934023.2:n.1136+2T>C
NM_000018.4:c.1077+2T>C MANE Select NP_000009.1:n.1077+2T>C
NM_001033859.3:c.1011+2T>C NP_001029031.1:n.1011+2T>C
NM_001270447.2:c.1146+2T>C NP_001257376.1:n.1146+2T>C
NM_001270448.2:c.849+2T>C NP_001257377.1:n.849+2T>C
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