Canonical Allele Identifier: CA130163

Gene: HINT1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.131162604G>A , CM000667.2:g.131162604G>A	GRCh38
NC_000005.9:g.130498297G>A , CM000667.1:g.130498297G>A	GRCh37
NC_000005.8:g.130526196G>A	NCBI36
NG_032998.1:g.7745C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005340.7:c.184C>T MANE Select	NP_005331.1:p.Gln62Ter
ENST00000304043.10:c.184C>T MANE Select	ENSP00000304229.5:p.Gln62Ter
NM_005340.6:c.184C>T	NP_005331.1:p.Gln62Ter
NR_024610.2:n.327C>T
NR_024610.3:n.235C>T
NR_024611.2:n.362C>T
NR_024611.3:n.270C>T
NR_073488.1:n.362C>T
NR_073488.2:n.270C>T
NR_134494.1:n.327C>T
NR_134494.2:n.235C>T
NR_134495.1:n.327C>T
NR_134495.2:n.235C>T
ENST00000304043.9:c.184C>T	ENSP00000304229.5:p.Gln62Ter
ENST00000504202.1:c.*21C>T	ENSP00000425260.1:n.*21C>T
ENST00000506207.1:n.203C>T
ENST00000506207.2:n.309C>T
ENST00000506908.1:c.184C>T	ENSP00000426860.1:p.Gln62Ter
ENST00000506908.2:c.184C>T	ENSP00000426860.1:p.Gln62Ter
ENST00000508488.1:c.184C>T	ENSP00000427499.1:p.Gln62Ter
ENST00000508488.2:c.184C>T	ENSP00000427499.1:p.Gln62Ter
ENST00000508495.5:c.184C>T	ENSP00000424974.1:p.Gln62Ter
ENST00000511475.5:c.184C>T	ENSP00000427008.1:p.Gln62Ter
ENST00000511475.6:c.184C>T	ENSP00000427008.1:p.Gln62Ter
ENST00000513012.1:c.*21C>T	ENSP00000422444.1:n.*21C>T
ENST00000513012.2:c.*21C>T	ENSP00000422444.1:n.*21C>T
ENST00000513345.5:c.*21C>T	ENSP00000421608.1:n.*21C>T
ENST00000513345.6:c.*21C>T	ENSP00000421608.1:n.*21C>T
ENST00000520028.1:c.24C>T
ENST00000520028.2:c.184C>T	ENSP00000430909.2:p.Gln62Ter
ENST00000675100.1:c.184C>T	ENSP00000502350.1:p.Gln62Ter
ENST00000675135.1:n.543C>T
ENST00000675372.1:c.*21C>T	ENSP00000502792.1:n.*21C>T
ENST00000675491.1:c.184C>T	ENSP00000502370.1:p.Gln62Ter
ENST00000676117.1:n.265C>T
XM_011543356.1:c.184C>T	XP_011541658.1:p.Gln62Ter