Canonical Allele Identifier: CA5676601
Gene: STN1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103898989C>T , CM000672.2:g.103898989C>T GRCh38
NC_000010.10:g.105658747C>T , CM000672.1:g.105658747C>T GRCh37
NC_000010.9:g.105648737C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369764.2:c.469G>A ENSP00000358779.1:p.Asp157Asn
ENST00000466828.6:c.469G>A ENSP00000513624.1:p.Asp157Asn
ENST00000698241.1:c.469G>A ENSP00000513621.1:p.Asp157Asn
ENST00000698242.1:c.469G>A ENSP00000513622.1:p.Asp157Asn
ENST00000698243.1:c.469G>A ENSP00000513623.1:p.Asp157Asn
ENST00000698245.1:c.469G>A ENSP00000513626.1:p.Asp157Asn
ENST00000698246.1:c.469G>A ENSP00000513627.1:p.Asp157Asn
ENST00000698297.1:c.469G>A ENSP00000513657.1:p.Asp157Asn
ENST00000698298.1:c.469G>A ENSP00000513658.1:p.Asp157Asn
ENST00000698299.1:c.469G>A ENSP00000513659.1:p.Asp157Asn
ENST00000698300.1:c.469G>A ENSP00000513660.1:p.Asp157Asn
ENST00000698301.1:c.-30G>A ENSP00000513661.1:n.-30G>A
ENST00000698302.1:c.*306G>A ENSP00000513662.1:n.*306G>A
ENST00000698303.1:c.373G>A ENSP00000513663.1:p.Asp125Asn
ENST00000698304.1:c.469G>A ENSP00000513664.1:p.Asp157Asn
ENST00000698305.1:c.469G>A ENSP00000513665.1:p.Asp157Asn
ENST00000698328.1:c.469G>A ENSP00000513669.1:p.Asp157Asn
ENST00000224950.8:c.469G>A MANE Select ENSP00000224950.3:p.Asp157Asn
ENST00000224950.7:c.469G>A ENSP00000224950.3:p.Asp157Asn
ENST00000369764.1:c.469G>A ENSP00000358779.1:p.Asp157Asn
ENST00000466828.5:n.562G>A
ENST00000472951.1:n.206G>A
NM_024928.4:c.469G>A NP_079204.2:p.Asp157Asn
XM_006717976.2:c.469G>A XP_006718039.1:p.Asp157Asn
XM_011540184.1:c.469G>A XP_011538486.1:p.Asp157Asn
NM_024928.5:c.469G>A MANE Select NP_079204.2:p.Asp157Asn