Canonical Allele Identifier: CA5676630

Gene: STN1

Linked Data

• ClinVar Variation Id: 747072
• ClinVar RCV Id: RCV000923746 ; RCV003960426
• dbSNP Id: rs772697510
• ExAC: 10:105659885 G / A
• gnomAD v2: 10-105659885-G-A
• gnomAD v3: 10-103900127-G-A
• gnomAD v4: 10-103900127-G-A
• COSMIC: COSM5836186
• MyVariant Identifiers: chr10:g.105659885G>A (hg19) ; chr10:g.103900127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103900127G>A , CM000672.2:g.103900127G>A	GRCh38
NC_000010.10:g.105659885G>A , CM000672.1:g.105659885G>A	GRCh37
NC_000010.9:g.105649875G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369764.2:c.392C>T	ENSP00000358779.1:p.Thr131Met
ENST00000466828.6:c.392C>T	ENSP00000513624.1:p.Thr131Met
ENST00000698241.1:c.392C>T	ENSP00000513621.1:p.Thr131Met
ENST00000698242.1:c.392C>T	ENSP00000513622.1:p.Thr131Met
ENST00000698243.1:c.392C>T	ENSP00000513623.1:p.Thr131Met
ENST00000698245.1:c.392C>T	ENSP00000513626.1:p.Thr131Met
ENST00000698246.1:c.392C>T	ENSP00000513627.1:p.Thr131Met
ENST00000698297.1:c.392C>T	ENSP00000513657.1:p.Thr131Met
ENST00000698298.1:c.392C>T	ENSP00000513658.1:p.Thr131Met
ENST00000698299.1:c.392C>T	ENSP00000513659.1:p.Thr131Met
ENST00000698300.1:c.392C>T	ENSP00000513660.1:p.Thr131Met
ENST00000698301.1:c.-107C>T	ENSP00000513661.1:n.-107C>T
ENST00000698302.1:c.*229C>T	ENSP00000513662.1:n.*229C>T
ENST00000698303.1:c.296C>T	ENSP00000513663.1:p.Thr99Met
ENST00000698304.1:c.392C>T	ENSP00000513664.1:p.Thr131Met
ENST00000698305.1:c.392C>T	ENSP00000513665.1:p.Thr131Met
ENST00000698328.1:c.392C>T	ENSP00000513669.1:p.Thr131Met
ENST00000224950.8:c.392C>T MANE Select	ENSP00000224950.3:p.Thr131Met
ENST00000224950.7:c.392C>T	ENSP00000224950.3:p.Thr131Met
ENST00000369764.1:c.392C>T	ENSP00000358779.1:p.Thr131Met
ENST00000466828.5:n.485C>T
ENST00000472951.1:n.27C>T
NM_024928.4:c.392C>T	NP_079204.2:p.Thr131Met
XM_006717976.2:c.392C>T	XP_006718039.1:p.Thr131Met
XM_011540184.1:c.392C>T	XP_011538486.1:p.Thr131Met
NM_024928.5:c.392C>T MANE Select	NP_079204.2:p.Thr131Met