Canonical Allele Identifier: CA378047356

Gene: STN1

Linked Data

• gnomAD v4: 10-103900131-C-T
• MyVariant Identifiers: chr10:g.105659889C>T (hg19) ; chr10:g.103900131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103900131C>T , CM000672.2:g.103900131C>T	GRCh38
NC_000010.10:g.105659889C>T , CM000672.1:g.105659889C>T	GRCh37
NC_000010.9:g.105649879C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369764.2:c.388G>A	ENSP00000358779.1:p.Asp130Asn
ENST00000466828.6:c.388G>A	ENSP00000513624.1:p.Asp130Asn
ENST00000698241.1:c.388G>A	ENSP00000513621.1:p.Asp130Asn
ENST00000698242.1:c.388G>A	ENSP00000513622.1:p.Asp130Asn
ENST00000698243.1:c.388G>A	ENSP00000513623.1:p.Asp130Asn
ENST00000698245.1:c.388G>A	ENSP00000513626.1:p.Asp130Asn
ENST00000698246.1:c.388G>A	ENSP00000513627.1:p.Asp130Asn
ENST00000698297.1:c.388G>A	ENSP00000513657.1:p.Asp130Asn
ENST00000698298.1:c.388G>A	ENSP00000513658.1:p.Asp130Asn
ENST00000698299.1:c.388G>A	ENSP00000513659.1:p.Asp130Asn
ENST00000698300.1:c.388G>A	ENSP00000513660.1:p.Asp130Asn
ENST00000698301.1:c.-111G>A	ENSP00000513661.1:n.-111G>A
ENST00000698302.1:c.*225G>A	ENSP00000513662.1:n.*225G>A
ENST00000698303.1:c.292G>A	ENSP00000513663.1:p.Asp98Asn
ENST00000698304.1:c.388G>A	ENSP00000513664.1:p.Asp130Asn
ENST00000698305.1:c.388G>A	ENSP00000513665.1:p.Asp130Asn
ENST00000698328.1:c.388G>A	ENSP00000513669.1:p.Asp130Asn
ENST00000224950.8:c.388G>A MANE Select	ENSP00000224950.3:p.Asp130Asn
ENST00000224950.7:c.388G>A	ENSP00000224950.3:p.Asp130Asn
ENST00000369764.1:c.388G>A	ENSP00000358779.1:p.Asp130Asn
ENST00000466828.5:n.481G>A
ENST00000472951.1:n.23G>A
NM_024928.4:c.388G>A	NP_079204.2:p.Asp130Asn
XM_006717976.2:c.388G>A	XP_006718039.1:p.Asp130Asn
XM_011540184.1:c.388G>A	XP_011538486.1:p.Asp130Asn
NM_024928.5:c.388G>A MANE Select	NP_079204.2:p.Asp130Asn