Canonical Allele Identifier: CA127814746
Community Standard Title: NM_005340.7(HINT1):c.316C>T (p.Gln106Ter)
Gene: HINT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.131159512G>A , CM000667.2:g.131159512G>A GRCh38
NC_000005.9:g.130495205G>A , CM000667.1:g.130495205G>A GRCh37
NC_000005.8:g.130523104G>A NCBI36
NG_032998.1:g.10837C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005340.7:c.316C>T MANE Select NP_005331.1:p.Gln106Ter
ENST00000304043.10:c.316C>T MANE Select ENSP00000304229.5:p.Gln106Ter
NM_005340.6:c.316C>T NP_005331.1:p.Gln106Ter
NR_024610.2:n.648C>T
NR_024610.3:n.556C>T
NR_024611.2:n.494C>T
NR_024611.3:n.402C>T
NR_073488.1:n.839C>T
NR_073488.2:n.747C>T
NR_134494.1:n.804C>T
NR_134494.2:n.712C>T
NR_134495.1:n.908C>T
NR_134495.2:n.816C>T
ENST00000304043.9:c.316C>T ENSP00000304229.5:p.Gln106Ter
ENST00000506207.1:n.335C>T
ENST00000506207.2:n.441C>T
ENST00000506908.2:c.*3039C>T ENSP00000426860.1:n.*3039C>T
ENST00000508488.2:c.*418C>T ENSP00000427499.1:n.*418C>T
ENST00000508495.5:c.*268C>T ENSP00000424974.1:n.*268C>T
ENST00000511475.5:c.*349C>T ENSP00000427008.1:n.*349C>T
ENST00000511475.6:c.*349C>T ENSP00000427008.1:n.*349C>T
ENST00000513012.2:c.*3113C>T ENSP00000422444.1:n.*3113C>T
ENST00000513345.5:c.*153C>T ENSP00000421608.1:n.*153C>T
ENST00000513345.6:c.*602C>T ENSP00000421608.1:n.*602C>T
ENST00000520028.2:c.*515C>T ENSP00000430909.2:n.*515C>T
ENST00000675100.1:c.216+3060C>T ENSP00000502350.1:n.216+3060C>T
ENST00000675135.1:n.675C>T
ENST00000675372.1:c.*153C>T ENSP00000502792.1:n.*153C>T
ENST00000675491.1:c.*2870C>T ENSP00000502370.1:n.*2870C>T
ENST00000676117.1:n.768C>T