Canonical Allele Identifier: CA7727068
Gene: TICRR HGNC NCBI
KIF7 HGNC NCBI
COSMIC:
COSM147978 (not active)
MyVariant.info:
GRCh38 chr15:g.89624877C>T
GRCh37 chr15:g.90168108C>T
Revel Score:
ENST00000268138 (MANE Select) 0.079
gnomAD v2:
15:90168108 C / T
gnomAD v3:
15:89624877 C / T
gnomAD v4:
chr15-89624877-C-T
Joint Max Group AF 0.95435433 (AFR)
Genomes Max Group AF 0.95119879 (AFR)
Exomes Max Group AF 0.95284948 (AFR)
dbSNP:
894157
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89624877C>T , CM000677.2:g.89624877C>T GRCh38
NC_000015.9:g.90168108C>T , CM000677.1:g.90168108C>T GRCh37
NC_000015.8:g.87969112C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000268138.12:c.4567C>T (TICRR) MANE Select ENSP00000268138.7:p.Arg1523Cys
ENST00000268138.11:c.4567C>T (TICRR) ENSP00000268138.7:p.Arg1523Cys
ENST00000558928.1:n.180+3724G>A (KIF7)
ENST00000560985.5:c.4564C>T (TICRR) ENSP00000453306.1:p.Arg1522Cys
NM_001308025.1:c.4564C>T (TICRR) NP_001294954.1:p.Arg1522Cys
NM_152259.3:c.4567C>T (TICRR) NP_689472.3:p.Arg1523Cys
XM_011521534.1:c.3973+3724G>A (KIF7) XP_011519836.1:n.3973+3724G>A
XM_011521535.1:c.3973+3724G>A (KIF7) XP_011519837.1:n.3973+3724G>A
XM_011521536.1:c.3973+3724G>A (KIF7) XP_011519838.1:n.3973+3724G>A
XM_011522162.1:c.4567C>T (TICRR) XP_011520464.1:p.Arg1523Cys
NM_152259.4:c.4567C>T (TICRR) MANE Select NP_689472.3:p.Arg1523Cys
Search 100 bp 5'
Search 100 bp 3'