Canonical Allele Identifier: CA494920833
Gene: STX1B HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.31004496C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993175C>A , CM000678.2:g.30993175C>A GRCh38
NC_000016.9:g.31004496C>A , CM000678.1:g.31004496C>A GRCh37
NC_000016.8:g.30911997C>A NCBI36
NG_041829.1:g.22334G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.741G>T MANE Select ENSP00000215095.5:p.Val247=
ENST00000565419.2:c.741G>T ENSP00000455899.1:p.Val247=
ENST00000215095.9:c.741G>T ENSP00000215095.5:p.Val247=
ENST00000565419.1:c.741G>T ENSP00000455899.1:p.Val247=
ENST00000569638.5:c.489G>T ENSP00000457067.1:p.Val163=
NM_052874.4:c.741G>T NP_443106.1:p.Val247=
XM_017022893.1:c.723G>T XP_016878382.1:p.Val241=
NM_052874.5:c.741G>T MANE Select NP_443106.1:p.Val247=