Canonical Allele Identifier: CA471336828

Gene: STN1

Linked Data

• ClinVar Variation Id: 1584430
• ClinVar RCV Id: RCV002102584
• dbSNP Id: rs1023891805
• gnomAD v2: 10-105659884-C-G
• gnomAD v4: 10-103900126-C-G
• MyVariant Identifiers: chr10:g.105659884C>G (hg19) ; chr10:g.103900126C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103900126C>G , CM000672.2:g.103900126C>G	GRCh38
NC_000010.10:g.105659884C>G , CM000672.1:g.105659884C>G	GRCh37
NC_000010.9:g.105649874C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369764.2:c.393G>C	ENSP00000358779.1:p.Thr131=
ENST00000466828.6:c.393G>C	ENSP00000513624.1:p.Thr131=
ENST00000698241.1:c.393G>C	ENSP00000513621.1:p.Thr131=
ENST00000698242.1:c.393G>C	ENSP00000513622.1:p.Thr131=
ENST00000698243.1:c.393G>C	ENSP00000513623.1:p.Thr131=
ENST00000698245.1:c.393G>C	ENSP00000513626.1:p.Thr131=
ENST00000698246.1:c.393G>C	ENSP00000513627.1:p.Thr131=
ENST00000698297.1:c.393G>C	ENSP00000513657.1:p.Thr131=
ENST00000698298.1:c.393G>C	ENSP00000513658.1:p.Thr131=
ENST00000698299.1:c.393G>C	ENSP00000513659.1:p.Thr131=
ENST00000698300.1:c.393G>C	ENSP00000513660.1:p.Thr131=
ENST00000698301.1:c.-106G>C	ENSP00000513661.1:n.-106G>C
ENST00000698302.1:c.*230G>C	ENSP00000513662.1:n.*230G>C
ENST00000698303.1:c.297G>C	ENSP00000513663.1:p.Thr99=
ENST00000698304.1:c.393G>C	ENSP00000513664.1:p.Thr131=
ENST00000698305.1:c.393G>C	ENSP00000513665.1:p.Thr131=
ENST00000698328.1:c.393G>C	ENSP00000513669.1:p.Thr131=
ENST00000224950.8:c.393G>C MANE Select	ENSP00000224950.3:p.Thr131=
ENST00000224950.7:c.393G>C	ENSP00000224950.3:p.Thr131=
ENST00000369764.1:c.393G>C	ENSP00000358779.1:p.Thr131=
ENST00000466828.5:n.486G>C
ENST00000472951.1:n.28G>C
NM_024928.4:c.393G>C	NP_079204.2:p.Thr131=
XM_006717976.2:c.393G>C	XP_006718039.1:p.Thr131=
XM_011540184.1:c.393G>C	XP_011538486.1:p.Thr131=
NM_024928.5:c.393G>C MANE Select	NP_079204.2:p.Thr131=