Canonical Allele Identifier: CA494920869
Gene: STX1B HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.31004544G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993223G>T , CM000678.2:g.30993223G>T GRCh38
NC_000016.9:g.31004544G>T , CM000678.1:g.31004544G>T GRCh37
NC_000016.8:g.30912045G>T NCBI36
NG_041829.1:g.22286C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.693C>A MANE Select ENSP00000215095.5:p.Arg231=
ENST00000565419.2:c.693C>A ENSP00000455899.1:p.Arg231=
ENST00000215095.9:c.693C>A ENSP00000215095.5:p.Arg231=
ENST00000565419.1:c.693C>A ENSP00000455899.1:p.Arg231=
ENST00000569638.5:c.441C>A ENSP00000457067.1:p.Arg147=
NM_052874.4:c.693C>A NP_443106.1:p.Arg231=
XM_017022893.1:c.675C>A XP_016878382.1:p.Arg225=
NM_052874.5:c.693C>A MANE Select NP_443106.1:p.Arg231=