Canonical Allele Identifier: CA5676531

Gene: STN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103897558G>C , CM000672.2:g.103897558G>C	GRCh38
NC_000010.10:g.105657316G>C , CM000672.1:g.105657316G>C	GRCh37
NC_000010.9:g.105647306G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369764.2:c.743C>G	ENSP00000358779.1:p.Ser248Cys
ENST00000466828.6:c.*192C>G	ENSP00000513624.1:n.*192C>G
ENST00000698241.1:c.743C>G	ENSP00000513621.1:p.Ser248Cys
ENST00000698242.1:c.743C>G	ENSP00000513622.1:p.Ser248Cys
ENST00000698243.1:c.743C>G	ENSP00000513623.1:p.Ser248Cys
ENST00000698245.1:c.743C>G	ENSP00000513626.1:p.Ser248Cys
ENST00000698246.1:c.743C>G	ENSP00000513627.1:p.Ser248Cys
ENST00000698297.1:c.743C>G	ENSP00000513657.1:p.Ser248Cys
ENST00000698298.1:c.743C>G	ENSP00000513658.1:p.Ser248Cys
ENST00000698299.1:c.743C>G	ENSP00000513659.1:p.Ser248Cys
ENST00000698300.1:c.743C>G	ENSP00000513660.1:p.Ser248Cys
ENST00000698301.1:c.245C>G	ENSP00000513661.1:p.Ser82Cys
ENST00000698302.1:c.*580C>G	ENSP00000513662.1:n.*580C>G
ENST00000698303.1:c.647C>G	ENSP00000513663.1:p.Ser216Cys
ENST00000698304.1:c.743C>G	ENSP00000513664.1:p.Ser248Cys
ENST00000698305.1:c.743C>G	ENSP00000513665.1:p.Ser248Cys
ENST00000698328.1:c.743C>G	ENSP00000513669.1:p.Ser248Cys
ENST00000224950.8:c.743C>G MANE Select	ENSP00000224950.3:p.Ser248Cys
ENST00000224950.7:c.743C>G	ENSP00000224950.3:p.Ser248Cys
ENST00000369764.1:c.743C>G	ENSP00000358779.1:p.Ser248Cys
ENST00000466828.5:n.921C>G
ENST00000472951.1:n.480C>G
NM_024928.4:c.743C>G	NP_079204.2:p.Ser248Cys
XM_006717976.2:c.743C>G	XP_006718039.1:p.Ser248Cys
XM_011540184.1:c.743C>G	XP_011538486.1:p.Ser248Cys
NM_024928.5:c.743C>G MANE Select	NP_079204.2:p.Ser248Cys