Canonical Allele Identifier: CA16044371
Gene: STN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375591
ClinVar RCV Id: RCV000417067
dbSNP Id: rs1057519583

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103900115C>G , CM000672.2:g.103900115C>G GRCh38
NC_000010.10:g.105659873C>G , CM000672.1:g.105659873C>G GRCh37
NC_000010.9:g.105649863C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000369764.2:c.404G>C ENSP00000358779.1:p.Arg135Thr
ENST00000466828.6:c.404G>C ENSP00000513624.1:p.Arg135Thr
ENST00000698241.1:c.404G>C ENSP00000513621.1:p.Arg135Thr
ENST00000698242.1:c.404G>C ENSP00000513622.1:p.Arg135Thr
ENST00000698243.1:c.404G>C ENSP00000513623.1:p.Arg135Thr
ENST00000698245.1:c.404G>C ENSP00000513626.1:p.Arg135Thr
ENST00000698246.1:c.404G>C ENSP00000513627.1:p.Arg135Thr
ENST00000698297.1:c.404G>C ENSP00000513657.1:p.Arg135Thr
ENST00000698298.1:c.404G>C ENSP00000513658.1:p.Arg135Thr
ENST00000698299.1:c.404G>C ENSP00000513659.1:p.Arg135Thr
ENST00000698300.1:c.404G>C ENSP00000513660.1:p.Arg135Thr
ENST00000698301.1:c.-95G>C ENSP00000513661.1:n.-95G>C
ENST00000698302.1:c.*241G>C ENSP00000513662.1:n.*241G>C
ENST00000698303.1:c.308G>C ENSP00000513663.1:p.Arg103Thr
ENST00000698304.1:c.404G>C ENSP00000513664.1:p.Arg135Thr
ENST00000698305.1:c.404G>C ENSP00000513665.1:p.Arg135Thr
ENST00000698328.1:c.404G>C ENSP00000513669.1:p.Arg135Thr
ENST00000224950.8:c.404G>C MANE Select ENSP00000224950.3:p.Arg135Thr
ENST00000224950.7:c.404G>C ENSP00000224950.3:p.Arg135Thr
ENST00000369764.1:c.404G>C ENSP00000358779.1:p.Arg135Thr
ENST00000466828.5:n.497G>C
ENST00000472951.1:n.39G>C
NM_024928.4:c.404G>C NP_079204.2:p.Arg135Thr
XM_006717976.2:c.404G>C XP_006718039.1:p.Arg135Thr
XM_011540184.1:c.404G>C XP_011538486.1:p.Arg135Thr
NM_024928.5:c.404G>C MANE Select NP_079204.2:p.Arg135Thr