Canonical Allele Identifier: CA3862238
Gene: TINAG HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.54321349T>C , CM000668.2:g.54321349T>C GRCh38
NC_000006.11:g.54186147T>C , CM000668.1:g.54186147T>C GRCh37
NC_000006.10:g.54294106T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000259782.9:c.472T>C MANE Select ENSP00000259782.4:p.Ser158Pro
ENST00000259782.8:c.472T>C ENSP00000259782.4:p.Ser158Pro
ENST00000370864.3:c.418T>C ENSP00000359901.3:p.Ser140Pro
ENST00000370869.7:c.460T>C ENSP00000359906.3:p.Ser154Pro
ENST00000486436.1:n.534T>C
NM_014464.3:c.472T>C NP_055279.3:p.Ser158Pro
XM_006715061.2:c.481T>C XP_006715124.1:p.Ser161Pro
XM_006715062.2:c.418T>C XP_006715125.1:p.Ser140Pro
XM_006715063.2:c.481T>C XP_006715126.1:p.Ser161Pro
XM_011514496.1:c.365-5449T>C XP_011512798.1:n.365-5449T>C
XM_011514497.1:c.356-5449T>C XP_011512799.1:n.356-5449T>C
XM_011514498.1:c.256T>C XP_011512800.1:p.Ser86Pro
XM_011514499.1:c.140-5449T>C XP_011512801.1:n.140-5449T>C
XR_427828.2:n.514T>C
XM_011514497.2:c.356-5449T>C XP_011512799.1:n.356-5449T>C
XM_017010745.1:c.472T>C XP_016866234.1:p.Ser158Pro
XM_017010746.1:c.247T>C XP_016866235.1:p.Ser83Pro
XM_017010747.1:c.131-5449T>C XP_016866236.1:n.131-5449T>C
XM_017010748.1:c.-34T>C XP_016866237.1:n.-34T>C
XR_001743344.2:n.582T>C
NM_014464.4:c.472T>C MANE Select NP_055279.3:p.Ser158Pro