Canonical Allele Identifier: CA4031668

Gene: STX11

Linked Data

• dbSNP Id: rs772510199
• ExAC: 6:144508040 C / T
• gnomAD v2: 6-144508040-C-T
• gnomAD v4: 6-144186903-C-T
• MyVariant Identifiers: chr6:g.144508040C>T (hg19) ; chr6:g.144186903C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.144186903C>T , CM000668.2:g.144186903C>T	GRCh38
NC_000006.11:g.144508040C>T , CM000668.1:g.144508040C>T	GRCh37
NC_000006.10:g.144549733C>T	NCBI36
NG_007613.1:g.41387C>T , LRG_113:g.41387C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698355.1:c.276C>T	ENSP00000513678.1:p.Ala92=
ENST00000698356.1:c.276C>T	ENSP00000513679.1:p.Ala92=
ENST00000698357.1:c.276C>T	ENSP00000513680.1:p.Ala92=
ENST00000367568.5:c.276C>T MANE Select	ENSP00000356540.4:p.Ala92=
ENST00000367568.4:c.276C>T	ENSP00000356540.4:p.Ala92=
NM_003764.3:c.276C>T , LRG_113t1:c.276C>T	NP_003755.2:p.Ala92=
XM_011536213.1:c.354C>T	XP_011534515.1:p.Ala118=
XM_011536214.1:c.276C>T	XP_011534516.1:p.Ala92=
XM_011536215.1:c.276C>T	XP_011534517.1:p.Ala92=
XM_011536216.1:c.276C>T	XP_011534518.1:p.Ala92=
XM_011536217.1:c.276C>T	XP_011534519.1:p.Ala92=
XM_011536218.1:c.276C>T	XP_011534520.1:p.Ala92=
XM_011536213.2:c.354C>T	XP_011534515.1:p.Ala118=
XM_011536214.2:c.276C>T	XP_011534516.1:p.Ala92=
XM_011536217.2:c.276C>T	XP_011534519.1:p.Ala92=
XM_011536218.2:c.276C>T	XP_011534520.1:p.Ala92=
XM_017011400.1:c.276C>T	XP_016866889.1:p.Ala92=
NM_003764.4:c.276C>T MANE Select	NP_003755.2:p.Ala92=