Canonical Allele Identifier: CA3398615

Gene: HINT1

Linked Data

• ClinVar Variation Id: 518173
• ClinVar RCV Id: RCV000616342 ; RCV002060659 ; RCV002404705
• dbSNP Id: rs199716973
• ExAC: 5:130498322 C / T
• gnomAD v2: 5-130498322-C-T
• gnomAD v3: 5-131162629-C-T
• gnomAD v4: 5-131162629-C-T
• MyVariant Identifiers: chr5:g.130498322C>T (hg19) ; chr5:g.131162629C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.131162629C>T , CM000667.2:g.131162629C>T	GRCh38
NC_000005.9:g.130498322C>T , CM000667.1:g.130498322C>T	GRCh37
NC_000005.8:g.130526221C>T	NCBI36
NG_032998.1:g.7720G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304043.10:c.159G>A MANE Select	ENSP00000304229.5:p.Leu53=
ENST00000506207.2:n.284G>A
ENST00000506908.2:c.159G>A	ENSP00000426860.1:p.Leu53=
ENST00000508488.2:c.159G>A	ENSP00000427499.1:p.Leu53=
ENST00000511475.6:c.159G>A	ENSP00000427008.1:p.Leu53=
ENST00000513012.2:c.194G>A	ENSP00000422444.1:p.Trp65Ter
ENST00000513345.6:c.194G>A	ENSP00000421608.1:p.Trp65Ter
ENST00000520028.2:c.159G>A	ENSP00000430909.2:p.Leu53=
ENST00000675100.1:c.159G>A	ENSP00000502350.1:p.Leu53=
ENST00000675135.1:n.518G>A
ENST00000675372.1:c.194G>A	ENSP00000502792.1:p.Trp65Ter
ENST00000675491.1:c.159G>A	ENSP00000502370.1:p.Leu53=
ENST00000676117.1:n.240G>A
ENST00000304043.9:c.159G>A	ENSP00000304229.5:p.Leu53=
ENST00000504202.1:c.194G>A	ENSP00000425260.1:p.Trp65Ter
ENST00000506207.1:n.178G>A
ENST00000506908.1:c.159G>A	ENSP00000426860.1:p.Leu53=
ENST00000508488.1:c.159G>A	ENSP00000427499.1:p.Leu53=
ENST00000508495.5:c.159G>A	ENSP00000424974.1:p.Leu53=
ENST00000511475.5:c.159G>A	ENSP00000427008.1:p.Leu53=
ENST00000513012.1:c.194G>A	ENSP00000422444.1:p.Trp65Ter
ENST00000513345.5:c.194G>A	ENSP00000421608.1:p.Trp65Ter
NM_005340.6:c.159G>A	NP_005331.1:p.Leu53=
NR_024610.2:n.302G>A
NR_024611.2:n.337G>A
NR_073488.1:n.337G>A
XM_011543356.1:c.159G>A	XP_011541658.1:p.Leu53=
NR_134494.1:n.302G>A
NR_134495.1:n.302G>A
NM_005340.7:c.159G>A MANE Select	NP_005331.1:p.Leu53=
NR_024610.3:n.210G>A
NR_024611.3:n.245G>A
NR_073488.2:n.245G>A
NR_134494.2:n.210G>A
NR_134495.2:n.210G>A