Canonical Allele Identifier: CA8337897
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932819
ClinVar RCV Id: RCV001200771 RCV001760160
dbSNP Id: rs780626099
ExAC: 17:7125970 C / A
gnomAD v2: 17-7125970-C-A
gnomAD v3: 17-7222651-C-A
gnomAD v4: 17-7222651-C-A
MyVariant Identifiers: chr17:g.7125970C>A (hg19) chr17:g.7222651C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222651C>A , CM000679.2:g.7222651C>A GRCh38
NC_000017.10:g.7125970C>A , CM000679.1:g.7125970C>A GRCh37
NC_000017.9:g.7066694C>A NCBI36
NG_007975.1:g.7818C>A
NG_008391.2:g.2400G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.879-16C>A MANE Select ENSP00000349297.5:n.879-16C>A
ENST00000322910.9:c.*834-16C>A ENSP00000325395.5:n.*834-16C>A
ENST00000350303.9:c.813-16C>A ENSP00000344152.5:n.813-16C>A
ENST00000356839.9:c.879-16C>A ENSP00000349297.5:n.879-16C>A
ENST00000543245.6:c.948-16C>A ENSP00000438689.2:n.948-16C>A
ENST00000578824.5:n.12C>A
ENST00000581378.5:c.597-16C>A
ENST00000582379.1:n.263-16C>A
NM_000018.3:c.879-16C>A NP_000009.1:n.879-16C>A
NM_001033859.2:c.813-16C>A NP_001029031.1:n.813-16C>A
NM_001270447.1:c.948-16C>A NP_001257376.1:n.948-16C>A
NM_001270448.1:c.651-16C>A NP_001257377.1:n.651-16C>A
XM_006721516.2:c.879-16C>A XP_006721579.2:n.879-16C>A
XM_011523829.1:c.879-16C>A XP_011522131.1:n.879-16C>A
XM_011523830.1:c.879-16C>A XP_011522132.1:n.879-16C>A
XR_934021.1:n.986-16C>A
XR_934022.1:n.986-16C>A
XR_934023.1:n.986-16C>A
XM_006721516.3:c.879-16C>A XP_006721579.2:n.879-16C>A
XM_011523829.2:c.879-16C>A XP_011522131.1:n.879-16C>A
XM_011523830.2:c.879-16C>A XP_011522132.1:n.879-16C>A
XM_024450741.1:c.879-16C>A XP_024306509.1:n.879-16C>A
XR_934021.2:n.938-16C>A
XR_934022.2:n.938-16C>A
XR_934023.2:n.938-16C>A
NM_000018.4:c.879-16C>A MANE Select NP_000009.1:n.879-16C>A
NM_001033859.3:c.813-16C>A NP_001029031.1:n.813-16C>A
NM_001270447.2:c.948-16C>A NP_001257376.1:n.948-16C>A
NM_001270448.2:c.651-16C>A NP_001257377.1:n.651-16C>A
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