Canonical Allele Identifier: CA395646804
Gene: STX1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993176A>G , CM000678.2:g.30993176A>G GRCh38
NC_000016.9:g.31004497A>G , CM000678.1:g.31004497A>G GRCh37
NC_000016.8:g.30911998A>G NCBI36
NG_041829.1:g.22333T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.740T>C MANE Select ENSP00000215095.5:p.Val247Ala
ENST00000565419.2:c.740T>C ENSP00000455899.1:p.Val247Ala
ENST00000215095.9:c.740T>C ENSP00000215095.5:p.Val247Ala
ENST00000565419.1:c.740T>C ENSP00000455899.1:p.Val247Ala
ENST00000569638.5:c.488T>C ENSP00000457067.1:p.Val163Ala
NM_052874.4:c.740T>C NP_443106.1:p.Val247Ala
XM_017022893.1:c.722T>C XP_016878382.1:p.Val241Ala
NM_052874.5:c.740T>C MANE Select NP_443106.1:p.Val247Ala