Canonical Allele Identifier: CA562985300
Community Standard Title: NM_005340.7(HINT1):c.216+27T>C
Gene: HINT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.131162545A>G , CM000667.2:g.131162545A>G GRCh38
NC_000005.9:g.130498238A>G , CM000667.1:g.130498238A>G GRCh37
NC_000005.8:g.130526137A>G NCBI36
NG_032998.1:g.7804T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005340.7:c.216+27T>C MANE Select NP_005331.1:n.216+27T>C
ENST00000304043.10:c.216+27T>C MANE Select ENSP00000304229.5:n.216+27T>C
NM_005340.6:c.216+27T>C NP_005331.1:n.216+27T>C
NR_024610.2:n.359+27T>C
NR_024610.3:n.267+27T>C
NR_024611.2:n.394+27T>C
NR_024611.3:n.302+27T>C
NR_073488.1:n.394+27T>C
NR_073488.2:n.302+27T>C
NR_134494.1:n.359+27T>C
NR_134494.2:n.267+27T>C
NR_134495.1:n.359+27T>C
NR_134495.2:n.267+27T>C
ENST00000304043.9:c.216+27T>C ENSP00000304229.5:n.216+27T>C
ENST00000504202.1:c.*53+27T>C ENSP00000425260.1:n.*53+27T>C
ENST00000506207.1:n.235+27T>C
ENST00000506207.2:n.341+27T>C
ENST00000506908.1:c.*6T>C ENSP00000426860.1:n.*6T>C
ENST00000506908.2:c.*6T>C ENSP00000426860.1:n.*6T>C
ENST00000508488.1:c.216+27T>C ENSP00000427499.1:n.216+27T>C
ENST00000508488.2:c.216+27T>C ENSP00000427499.1:n.216+27T>C
ENST00000508495.5:c.216+27T>C ENSP00000424974.1:n.216+27T>C
ENST00000511475.5:c.216+27T>C ENSP00000427008.1:n.216+27T>C
ENST00000511475.6:c.216+27T>C ENSP00000427008.1:n.216+27T>C
ENST00000513012.1:c.*80T>C ENSP00000422444.1:n.*80T>C
ENST00000513012.2:c.*80T>C ENSP00000422444.1:n.*80T>C
ENST00000513345.5:c.*53+27T>C ENSP00000421608.1:n.*53+27T>C
ENST00000513345.6:c.*53+27T>C ENSP00000421608.1:n.*53+27T>C
ENST00000520028.1:c.56+27T>C
ENST00000520028.2:c.216+27T>C ENSP00000430909.2:n.216+27T>C
ENST00000675100.1:c.216+27T>C ENSP00000502350.1:n.216+27T>C
ENST00000675135.1:n.575+27T>C
ENST00000675372.1:c.*53+27T>C ENSP00000502792.1:n.*53+27T>C
ENST00000675491.1:c.216+27T>C ENSP00000502370.1:n.216+27T>C
ENST00000676117.1:n.297+27T>C
XM_011543356.1:c.216+27T>C XP_011541658.1:n.216+27T>C