Canonical Allele Identifier: CA4031613

Gene: STX11

Linked Data

• ClinVar Variation Id: 1412986
• ClinVar RCV Id: RCV001925648
• dbSNP Id: rs143547259
• ExAC: 6:144507847 C / A
• gnomAD v2: 6-144507847-C-A
• gnomAD v4: 6-144186710-C-A
• MyVariant Identifiers: chr6:g.144507847C>A (hg19) ; chr6:g.144186710C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.144186710C>A , CM000668.2:g.144186710C>A	GRCh38
NC_000006.11:g.144507847C>A , CM000668.1:g.144507847C>A	GRCh37
NC_000006.10:g.144549540C>A	NCBI36
NG_007613.1:g.41194C>A , LRG_113:g.41194C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698355.1:c.83C>A	ENSP00000513678.1:p.Ser28Ter
ENST00000698356.1:c.83C>A	ENSP00000513679.1:p.Ser28Ter
ENST00000698357.1:c.83C>A	ENSP00000513680.1:p.Ser28Ter
ENST00000367568.5:c.83C>A MANE Select	ENSP00000356540.4:p.Ser28Ter
ENST00000367568.4:c.83C>A	ENSP00000356540.4:p.Ser28Ter
NM_003764.3:c.83C>A , LRG_113t1:c.83C>A	NP_003755.2:p.Ser28Ter
XM_011536213.1:c.161C>A	XP_011534515.1:p.Ser54Ter
XM_011536214.1:c.83C>A	XP_011534516.1:p.Ser28Ter
XM_011536215.1:c.83C>A	XP_011534517.1:p.Ser28Ter
XM_011536216.1:c.83C>A	XP_011534518.1:p.Ser28Ter
XM_011536217.1:c.83C>A	XP_011534519.1:p.Ser28Ter
XM_011536218.1:c.83C>A	XP_011534520.1:p.Ser28Ter
XM_011536213.2:c.161C>A	XP_011534515.1:p.Ser54Ter
XM_011536214.2:c.83C>A	XP_011534516.1:p.Ser28Ter
XM_011536217.2:c.83C>A	XP_011534519.1:p.Ser28Ter
XM_011536218.2:c.83C>A	XP_011534520.1:p.Ser28Ter
XM_017011400.1:c.83C>A	XP_016866889.1:p.Ser28Ter
NM_003764.4:c.83C>A MANE Select	NP_003755.2:p.Ser28Ter