Canonical Allele Identifier: CA4031650

Gene: STX11

Linked Data

• ClinVar Variation Id: 1381275
• ClinVar RCV Id: RCV001895279
• dbSNP Id: rs759943002
• ExAC: 6:144507964 A / G
• gnomAD v2: 6-144507964-A-G
• gnomAD v4: 6-144186827-A-G
• MyVariant Identifiers: chr6:g.144507964A>G (hg19) ; chr6:g.144186827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.144186827A>G , CM000668.2:g.144186827A>G	GRCh38
NC_000006.11:g.144507964A>G , CM000668.1:g.144507964A>G	GRCh37
NC_000006.10:g.144549657A>G	NCBI36
NG_007613.1:g.41311A>G , LRG_113:g.41311A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698355.1:c.200A>G	ENSP00000513678.1:p.Lys67Arg
ENST00000698356.1:c.200A>G	ENSP00000513679.1:p.Lys67Arg
ENST00000698357.1:c.200A>G	ENSP00000513680.1:p.Lys67Arg
ENST00000367568.5:c.200A>G MANE Select	ENSP00000356540.4:p.Lys67Arg
ENST00000367568.4:c.200A>G	ENSP00000356540.4:p.Lys67Arg
NM_003764.3:c.200A>G , LRG_113t1:c.200A>G	NP_003755.2:p.Lys67Arg
XM_011536213.1:c.278A>G	XP_011534515.1:p.Lys93Arg
XM_011536214.1:c.200A>G	XP_011534516.1:p.Lys67Arg
XM_011536215.1:c.200A>G	XP_011534517.1:p.Lys67Arg
XM_011536216.1:c.200A>G	XP_011534518.1:p.Lys67Arg
XM_011536217.1:c.200A>G	XP_011534519.1:p.Lys67Arg
XM_011536218.1:c.200A>G	XP_011534520.1:p.Lys67Arg
XM_011536213.2:c.278A>G	XP_011534515.1:p.Lys93Arg
XM_011536214.2:c.200A>G	XP_011534516.1:p.Lys67Arg
XM_011536217.2:c.200A>G	XP_011534519.1:p.Lys67Arg
XM_011536218.2:c.200A>G	XP_011534520.1:p.Lys67Arg
XM_017011400.1:c.200A>G	XP_016866889.1:p.Lys67Arg
NM_003764.4:c.200A>G MANE Select	NP_003755.2:p.Lys67Arg