Canonical Allele Identifier: CA12615122
Gene: STX1A HGNC NCBI
BUD23 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.73700151C>T
GRCh37 chr7:g.73114481C>T
gnomAD v2:
7:73114481 C / T
gnomAD v3:
7:73700151 C / T
gnomAD v4:
chr7-73700151-C-T
Joint Max Group AF 0.15760245 (AFR)
Genomes Max Group AF 0.15700818 (AFR)
Exomes Max Group AF 0.15517226 (AFR)
dbSNP:
1569061
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73700151C>T , CM000669.2:g.73700151C>T GRCh38
NC_000007.13:g.73114481C>T , CM000669.1:g.73114481C>T GRCh37
NC_000007.12:g.72752417C>T NCBI36
NG_013360.1:g.24537G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222812.8:c.*256G>A (STX1A) MANE Select ENSP00000222812.3:n.*256G>A
ENST00000222812.7:c.*256G>A (STX1A) ENSP00000222812.3:n.*256G>A
ENST00000395156.7:c.*321G>A (STX1A) ENSP00000378585.3:n.*321G>A
ENST00000436944.5:c.*294+2457C>T (BUD23) ENSP00000391410.2:n.*294+2457C>T
ENST00000484736.5:n.536G>A (STX1A)
NM_001165903.1:c.*321G>A (STX1A) NP_001159375.1:n.*321G>A
NM_004603.3:c.*256G>A (STX1A) NP_004594.1:n.*256G>A
XM_011516541.1:c.*256G>A (STX1A) XP_011514843.1:n.*256G>A
XR_242263.1:n.1285G>A (STX1A)
XR_927527.1:n.1400G>A (STX1A)
XR_927528.1:n.1338G>A (STX1A)
XR_242263.2:n.1256G>A (STX1A)
XR_927527.2:n.1371G>A (STX1A)
NM_004603.4:c.*256G>A (STX1A) MANE Select NP_004594.1:n.*256G>A
NM_001165903.2:c.*321G>A (STX1A) NP_001159375.1:n.*321G>A
Search 100 bp 5'
Search 100 bp 3'