Canonical Allele Identifier: CA8337882
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932818
ClinVar RCV Id: RCV001200770
dbSNP Id: rs201502622
ExAC: 17:7125650 G / C
gnomAD v2: 17-7125650-G-C
gnomAD v3: 17-7222331-G-C
gnomAD v4: 17-7222331-G-C
MyVariant Identifiers: chr17:g.7125650G>C (hg19) chr17:g.7222331G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222331G>C , CM000679.2:g.7222331G>C GRCh38
NC_000017.10:g.7125650G>C , CM000679.1:g.7125650G>C GRCh37
NC_000017.9:g.7066374G>C NCBI36
NG_007975.1:g.7498G>C
NG_008391.2:g.2720C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.878+29G>C MANE Select ENSP00000349297.5:n.878+29G>C
ENST00000322910.9:c.*833+29G>C ENSP00000325395.5:n.*833+29G>C
ENST00000350303.9:c.812+29G>C ENSP00000344152.5:n.812+29G>C
ENST00000356839.9:c.878+29G>C ENSP00000349297.5:n.878+29G>C
ENST00000543245.6:c.947+29G>C ENSP00000438689.2:n.947+29G>C
ENST00000577191.5:n.1079G>C
ENST00000581378.5:c.596+29G>C
ENST00000582379.1:n.262+29G>C
NM_000018.3:c.878+29G>C NP_000009.1:n.878+29G>C
NM_001033859.2:c.812+29G>C NP_001029031.1:n.812+29G>C
NM_001270447.1:c.947+29G>C NP_001257376.1:n.947+29G>C
NM_001270448.1:c.650+29G>C NP_001257377.1:n.650+29G>C
XM_006721516.2:c.878+29G>C XP_006721579.2:n.878+29G>C
XM_011523829.1:c.878+29G>C XP_011522131.1:n.878+29G>C
XM_011523830.1:c.878+29G>C XP_011522132.1:n.878+29G>C
XR_934021.1:n.985+29G>C
XR_934022.1:n.985+29G>C
XR_934023.1:n.985+29G>C
XM_006721516.3:c.878+29G>C XP_006721579.2:n.878+29G>C
XM_011523829.2:c.878+29G>C XP_011522131.1:n.878+29G>C
XM_011523830.2:c.878+29G>C XP_011522132.1:n.878+29G>C
XM_024450741.1:c.878+29G>C XP_024306509.1:n.878+29G>C
XR_934021.2:n.937+29G>C
XR_934022.2:n.937+29G>C
XR_934023.2:n.937+29G>C
NM_000018.4:c.878+29G>C MANE Select NP_000009.1:n.878+29G>C
NM_001033859.3:c.812+29G>C NP_001029031.1:n.812+29G>C
NM_001270447.2:c.947+29G>C NP_001257376.1:n.947+29G>C
NM_001270448.2:c.650+29G>C NP_001257377.1:n.650+29G>C
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