Canonical Allele Identifier: CA149823924
Gene: STX11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2828212
ClinVar RCV Id: RCV003613887
dbSNP Id: rs144857231

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.144186799C>T , CM000668.2:g.144186799C>T GRCh38
NC_000006.11:g.144507936C>T , CM000668.1:g.144507936C>T GRCh37
NC_000006.10:g.144549629C>T NCBI36
NG_007613.1:g.41283C>T , LRG_113:g.41283C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698355.1:c.172C>T ENSP00000513678.1:p.Leu58=
ENST00000698356.1:c.172C>T ENSP00000513679.1:p.Leu58=
ENST00000698357.1:c.172C>T ENSP00000513680.1:p.Leu58=
ENST00000367568.5:c.172C>T MANE Select ENSP00000356540.4:p.Leu58=
ENST00000367568.4:c.172C>T ENSP00000356540.4:p.Leu58=
NM_003764.3:c.172C>T , LRG_113t1:c.172C>T NP_003755.2:p.Leu58=
XM_011536213.1:c.250C>T XP_011534515.1:p.Leu84=
XM_011536214.1:c.172C>T XP_011534516.1:p.Leu58=
XM_011536215.1:c.172C>T XP_011534517.1:p.Leu58=
XM_011536216.1:c.172C>T XP_011534518.1:p.Leu58=
XM_011536217.1:c.172C>T XP_011534519.1:p.Leu58=
XM_011536218.1:c.172C>T XP_011534520.1:p.Leu58=
XM_011536213.2:c.250C>T XP_011534515.1:p.Leu84=
XM_011536214.2:c.172C>T XP_011534516.1:p.Leu58=
XM_011536217.2:c.172C>T XP_011534519.1:p.Leu58=
XM_011536218.2:c.172C>T XP_011534520.1:p.Leu58=
XM_017011400.1:c.172C>T XP_016866889.1:p.Leu58=
NM_003764.4:c.172C>T MANE Select NP_003755.2:p.Leu58=