Canonical Allele Identifier: CA10559326
Gene: TKTL1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.154309384C>G
GRCh37 chrX:g.153537736C>G
Revel Score:
ENST00000369915 (MANE Select) 0.432
ENST00000441970 0.432
ENST00000426989 0.432
ENST00000369912 0.432
ENST00000426203 0.802
gnomAD v2:
X:153537736 C / G
gnomAD v3:
X:154309384 C / G
gnomAD v4:
chrX-154309384-C-G
Joint Max Group AF 0.00005672 (AFR)
Genomes Max Group AF 0.00006364 (AFR)
Exomes Max Group AF 0.00001254 (AFR)
ClinVar RCV:
RCV004079368
ClinVar Variation:
2210800
dbSNP:
199531907
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154309384C>G , CM000685.2:g.154309384C>G GRCh38
NC_000023.10:g.153537736C>G , CM000685.1:g.153537736C>G GRCh37
NC_000023.9:g.153190930C>G NCBI36
NG_028264.1:g.18710C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710264.1:c.292C>G ENSP00000518160.1:p.Gln98Glu
ENST00000369915.8:c.292C>G MANE Select ENSP00000358931.3:p.Gln98Glu
ENST00000369912.2:c.124C>G ENSP00000358928.2:p.Gln42Glu
ENST00000369915.7:c.292C>G ENSP00000358931.3:p.Gln98Glu
ENST00000426203.5:c.239C>G
ENST00000426989.5:c.292C>G ENSP00000401111.1:p.Gln98Glu
ENST00000439635.5:c.292C>G ENSP00000399763.1:p.Gln98Glu
NM_001145933.1:c.274C>G NP_001139405.1:p.Gln92Glu
NM_001145934.1:c.124C>G NP_001139406.1:p.Gln42Glu
NM_012253.3:c.292C>G NP_036385.3:p.Gln98Glu
NM_012253.4:c.292C>G MANE Select NP_036385.3:p.Gln98Glu
NM_001145933.2:c.274C>G NP_001139405.1:p.Gln92Glu
NM_001145934.2:c.124C>G NP_001139406.1:p.Gln42Glu
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