Canonical Allele Identifier: CA395646884
Gene: STX1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993210C>A , CM000678.2:g.30993210C>A GRCh38
NC_000016.9:g.31004531C>A , CM000678.1:g.31004531C>A GRCh37
NC_000016.8:g.30912032C>A NCBI36
NG_041829.1:g.22299G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.706G>T MANE Select ENSP00000215095.5:p.Val236Leu
ENST00000565419.2:c.706G>T ENSP00000455899.1:p.Val236Leu
ENST00000215095.9:c.706G>T ENSP00000215095.5:p.Val236Leu
ENST00000565419.1:c.706G>T ENSP00000455899.1:p.Val236Leu
ENST00000569638.5:c.454G>T ENSP00000457067.1:p.Val152Leu
NM_052874.4:c.706G>T NP_443106.1:p.Val236Leu
XM_017022893.1:c.688G>T XP_016878382.1:p.Val230Leu
NM_052874.5:c.706G>T MANE Select NP_443106.1:p.Val236Leu