Canonical Allele Identifier: CA395646660
Gene: STX1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993149T>A , CM000678.2:g.30993149T>A GRCh38
NC_000016.9:g.31004470T>A , CM000678.1:g.31004470T>A GRCh37
NC_000016.8:g.30911971T>A NCBI36
NG_041829.1:g.22360A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.767A>T MANE Select ENSP00000215095.5:p.Tyr256Phe
ENST00000565419.2:c.767A>T ENSP00000455899.1:p.Tyr256Phe
ENST00000215095.9:c.767A>T ENSP00000215095.5:p.Tyr256Phe
ENST00000565419.1:c.767A>T ENSP00000455899.1:p.Tyr256Phe
ENST00000569638.5:c.515A>T ENSP00000457067.1:p.Tyr172Phe
NM_052874.4:c.767A>T NP_443106.1:p.Tyr256Phe
XM_017022893.1:c.749A>T XP_016878382.1:p.Tyr250Phe
NM_052874.5:c.767A>T MANE Select NP_443106.1:p.Tyr256Phe