Canonical Allele Identifier: CA130160
Community Standard Title: NM_005340.7(HINT1):c.266G>T (p.Gly89Val)
Gene: HINT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.131159562C>A , CM000667.2:g.131159562C>A GRCh38
NC_000005.9:g.130495255C>A , CM000667.1:g.130495255C>A GRCh37
NC_000005.8:g.130523154C>A NCBI36
NG_032998.1:g.10787G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005340.7:c.266G>T MANE Select NP_005331.1:p.Gly89Val
ENST00000304043.10:c.266G>T MANE Select ENSP00000304229.5:p.Gly89Val
NM_005340.6:c.266G>T NP_005331.1:p.Gly89Val
NR_024610.2:n.598G>T
NR_024610.3:n.506G>T
NR_024611.2:n.444G>T
NR_024611.3:n.352G>T
NR_073488.1:n.789G>T
NR_073488.2:n.697G>T
NR_134494.1:n.754G>T
NR_134494.2:n.662G>T
NR_134495.1:n.858G>T
NR_134495.2:n.766G>T
ENST00000304043.9:c.266G>T ENSP00000304229.5:p.Gly89Val
ENST00000506207.1:n.285G>T
ENST00000506207.2:n.391G>T
ENST00000506908.2:c.*2989G>T ENSP00000426860.1:n.*2989G>T
ENST00000508488.2:c.*368G>T ENSP00000427499.1:n.*368G>T
ENST00000508495.5:c.*218G>T ENSP00000424974.1:n.*218G>T
ENST00000511475.5:c.*299G>T ENSP00000427008.1:n.*299G>T
ENST00000511475.6:c.*299G>T ENSP00000427008.1:n.*299G>T
ENST00000513012.2:c.*3063G>T ENSP00000422444.1:n.*3063G>T
ENST00000513345.5:c.*103G>T ENSP00000421608.1:n.*103G>T
ENST00000513345.6:c.*552G>T ENSP00000421608.1:n.*552G>T
ENST00000520028.2:c.*465G>T ENSP00000430909.2:n.*465G>T
ENST00000675100.1:c.216+3010G>T ENSP00000502350.1:n.216+3010G>T
ENST00000675135.1:n.625G>T
ENST00000675372.1:c.*103G>T ENSP00000502792.1:n.*103G>T
ENST00000675491.1:c.*2820G>T ENSP00000502370.1:n.*2820G>T
ENST00000676117.1:n.718G>T