Canonical Allele Identifier: CA395646966
Gene: STX1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993231T>C , CM000678.2:g.30993231T>C GRCh38
NC_000016.9:g.31004552T>C , CM000678.1:g.31004552T>C GRCh37
NC_000016.8:g.30912053T>C NCBI36
NG_041829.1:g.22278A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.685A>G MANE Select ENSP00000215095.5:p.Ile229Val
ENST00000565419.2:c.685A>G ENSP00000455899.1:p.Ile229Val
ENST00000215095.9:c.685A>G ENSP00000215095.5:p.Ile229Val
ENST00000565419.1:c.685A>G ENSP00000455899.1:p.Ile229Val
ENST00000569638.5:c.433A>G ENSP00000457067.1:p.Ile145Val
NM_052874.4:c.685A>G NP_443106.1:p.Ile229Val
XM_017022893.1:c.667A>G XP_016878382.1:p.Ile223Val
NM_052874.5:c.685A>G MANE Select NP_443106.1:p.Ile229Val