Canonical Allele Identifier: CA378047352

Gene: STN1

Linked Data

• MyVariant Identifiers: chr10:g.105659888T>A (hg19) ; chr10:g.103900130T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103900130T>A , CM000672.2:g.103900130T>A	GRCh38
NC_000010.10:g.105659888T>A , CM000672.1:g.105659888T>A	GRCh37
NC_000010.9:g.105649878T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369764.2:c.389A>T	ENSP00000358779.1:p.Asp130Val
ENST00000466828.6:c.389A>T	ENSP00000513624.1:p.Asp130Val
ENST00000698241.1:c.389A>T	ENSP00000513621.1:p.Asp130Val
ENST00000698242.1:c.389A>T	ENSP00000513622.1:p.Asp130Val
ENST00000698243.1:c.389A>T	ENSP00000513623.1:p.Asp130Val
ENST00000698245.1:c.389A>T	ENSP00000513626.1:p.Asp130Val
ENST00000698246.1:c.389A>T	ENSP00000513627.1:p.Asp130Val
ENST00000698297.1:c.389A>T	ENSP00000513657.1:p.Asp130Val
ENST00000698298.1:c.389A>T	ENSP00000513658.1:p.Asp130Val
ENST00000698299.1:c.389A>T	ENSP00000513659.1:p.Asp130Val
ENST00000698300.1:c.389A>T	ENSP00000513660.1:p.Asp130Val
ENST00000698301.1:c.-110A>T	ENSP00000513661.1:n.-110A>T
ENST00000698302.1:c.*226A>T	ENSP00000513662.1:n.*226A>T
ENST00000698303.1:c.293A>T	ENSP00000513663.1:p.Asp98Val
ENST00000698304.1:c.389A>T	ENSP00000513664.1:p.Asp130Val
ENST00000698305.1:c.389A>T	ENSP00000513665.1:p.Asp130Val
ENST00000698328.1:c.389A>T	ENSP00000513669.1:p.Asp130Val
ENST00000224950.8:c.389A>T MANE Select	ENSP00000224950.3:p.Asp130Val
ENST00000224950.7:c.389A>T	ENSP00000224950.3:p.Asp130Val
ENST00000369764.1:c.389A>T	ENSP00000358779.1:p.Asp130Val
ENST00000466828.5:n.482A>T
ENST00000472951.1:n.24A>T
NM_024928.4:c.389A>T	NP_079204.2:p.Asp130Val
XM_006717976.2:c.389A>T	XP_006718039.1:p.Asp130Val
XM_011540184.1:c.389A>T	XP_011538486.1:p.Asp130Val
NM_024928.5:c.389A>T MANE Select	NP_079204.2:p.Asp130Val