Canonical Allele Identifier: CA412415935
Gene: TLR8 HGNC NCBI
TLR8-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.12920522C>A
GRCh37 chrX:g.12938641C>A
Revel Score:
ENST00000218032 (MANE Select) 0.219
ENST00000311912 0.219
ClinVar Allele:
1161868
ClinVar RCV:
RCV001526672
RCV002246411
ClinVar Variation:
1172679
dbSNP:
2147259120
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.12920522C>A , CM000685.2:g.12920522C>A GRCh38
NC_000023.10:g.12938641C>A , CM000685.1:g.12938641C>A GRCh37
NC_000023.9:g.12848562C>A NCBI36
NG_012882.2:g.18903C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218032.7:c.1482C>A (TLR8) MANE Select ENSP00000218032.7:p.Phe494Leu
ENST00000218032.6:c.1482C>A (TLR8) ENSP00000218032.6:p.Phe494Leu
ENST00000311912.5:c.1536C>A (TLR8) ENSP00000312082.5:p.Phe512Leu
NM_016610.3:c.1536C>A (TLR8) NP_057694.2:p.Phe512Leu
NM_138636.5:c.1482C>A (TLR8) MANE Select NP_619542.1:p.Phe494Leu
NR_030727.1:n.241-12189G>T (TLR8-AS1)
XM_011545529.1:c.1536C>A (TLR8) XP_011543831.1:p.Phe512Leu
XM_011545530.1:c.1536C>A (TLR8) XP_011543832.1:p.Phe512Leu
XM_011545530.2:c.1536C>A (TLR8) XP_011543832.1:p.Phe512Leu
NM_016610.4:c.1536C>A (TLR8) NP_057694.2:p.Phe512Leu
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