Canonical Allele Identifier: CA8435086
Gene: TVP23B HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.18790924T>C
GRCh37 chr17:g.18694237T>C
Revel Score:
ENST00000307767 (MANE Select) 0.353
gnomAD v2:
17:18694237 T / C
gnomAD v3:
17:18790924 T / C
gnomAD v4:
chr17-18790924-T-C
Joint Max Group AF 0.00006728 (NFE)
Genomes Max Group AF 0.00001913 (AFR)
Exomes Max Group AF 0.00006876 (NFE)
ClinVar Allele:
2209858
ClinVar RCV:
RCV004076319
ClinVar Variation:
2217350
dbSNP:
757056737
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18790924T>C , CM000679.2:g.18790924T>C GRCh38
NC_000017.10:g.18694237T>C , CM000679.1:g.18694237T>C GRCh37
NC_000017.9:g.18634962T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000307767.13:c.124T>C MANE Select ENSP00000305654.8:p.Phe42Leu
ENST00000307767.12:c.124T>C ENSP00000305654.8:p.Phe42Leu
ENST00000476139.5:c.-69T>C ENSP00000463400.2:n.-69T>C
ENST00000571018.5:c.95+1489T>C ENSP00000460797.1:n.95+1489T>C
ENST00000572845.1:n.73+1489T>C
ENST00000574226.5:c.124T>C ENSP00000462334.1:p.Phe42Leu
ENST00000574294.5:c.124T>C ENSP00000460239.1:p.Phe42Leu
ENST00000575261.5:c.-69T>C ENSP00000467001.1:n.-69T>C
ENST00000581733.1:c.-69T>C ENSP00000465872.1:n.-69T>C
NM_001316919.1:c.-69T>C NP_001303848.1:n.-69T>C
NM_001316920.1:c.-69T>C NP_001303849.1:n.-69T>C
NM_001316921.1:c.-69T>C NP_001303850.1:n.-69T>C
NM_001316922.1:c.-55T>C NP_001303851.1:n.-55T>C
NM_001316923.1:c.-19+1489T>C NP_001303852.1:n.-19+1489T>C
NM_001316924.1:c.124T>C NP_001303853.1:p.Phe42Leu
NM_016078.4:c.124T>C NP_057162.4:p.Phe42Leu
NM_016078.5:c.124T>C NP_057162.4:p.Phe42Leu
XM_005256673.3:c.124T>C XP_005256730.1:p.Phe42Leu
NM_016078.6:c.124T>C MANE Select NP_057162.4:p.Phe42Leu
NM_001316924.2:c.124T>C NP_001303853.1:p.Phe42Leu
NM_001316921.2:c.-69T>C NP_001303850.1:n.-69T>C
NM_001316922.2:c.-55T>C NP_001303851.1:n.-55T>C
NM_001316923.2:c.-19+1489T>C NP_001303852.1:n.-19+1489T>C
Search 100 bp 5'
Search 100 bp 3'