Canonical Allele Identifier: CA9984766
Gene: TMPRSS15 HGNC NCBI
COSMIC:
COSM3758811 (not active)
MyVariant.info:
GRCh38 chr21:g.18383723C>G
GRCh37 chr21:g.19756040C>G
Revel Score:
ENST00000284885 (MANE Select) 0.053
ENST00000422787 0.053
gnomAD v2:
21:19756040 C / G
gnomAD v3:
21:18383723 C / G
gnomAD v4:
chr21-18383723-C-G
Joint Max Group AF 0.31361493 (MID)
Genomes Max Group AF 0.28318912 (AMR)
Exomes Max Group AF 0.31452041 (MID)
ClinVar RCV:
RCV002862363
ClinVar Variation:
2021056
dbSNP:
2824790
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.18383723C>G , CM000683.2:g.18383723C>G GRCh38
NC_000021.8:g.19756040C>G , CM000683.1:g.19756040C>G GRCh37
NC_000021.7:g.18677911C>G NCBI36
NG_012207.1:g.24931G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284885.8:c.400G>C MANE Select ENSP00000284885.3:p.Glu134Gln
ENST00000284885.7:c.400G>C ENSP00000284885.3:p.Glu134Gln
ENST00000422787.1:c.265G>C ENSP00000398253.1:p.Glu89Gln
ENST00000474775.1:c.-222G>C ENSP00000474811.1:n.-222G>C
NM_002772.2:c.400G>C NP_002763.2:p.Glu134Gln
XM_011529654.1:c.490G>C XP_011527956.1:p.Glu164Gln
XM_011529655.1:c.490G>C XP_011527957.1:p.Glu164Gln
XM_011529656.1:c.490G>C XP_011527958.1:p.Glu164Gln
XM_011529657.1:c.490G>C XP_011527959.1:p.Glu164Gln
XM_011529658.1:c.490G>C XP_011527960.1:p.Glu164Gln
XM_011529659.1:c.400G>C XP_011527961.1:p.Glu134Gln
XM_011529654.2:c.490G>C XP_011527956.1:p.Glu164Gln
XM_011529656.2:c.490G>C XP_011527958.1:p.Glu164Gln
XM_011529657.2:c.490G>C XP_011527959.1:p.Glu164Gln
XM_011529658.2:c.490G>C XP_011527960.1:p.Glu164Gln
NM_002772.3:c.400G>C MANE Select NP_002763.3:p.Glu134Gln
Search 100 bp 5'
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