Canonical Allele Identifier: CA494920852
Gene: STX1B HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.31004520A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993199A>G , CM000678.2:g.30993199A>G GRCh38
NC_000016.9:g.31004520A>G , CM000678.1:g.31004520A>G GRCh37
NC_000016.8:g.30912021A>G NCBI36
NG_041829.1:g.22310T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.717T>C MANE Select ENSP00000215095.5:p.Ser239=
ENST00000565419.2:c.717T>C ENSP00000455899.1:p.Ser239=
ENST00000215095.9:c.717T>C ENSP00000215095.5:p.Ser239=
ENST00000565419.1:c.717T>C ENSP00000455899.1:p.Ser239=
ENST00000569638.5:c.465T>C ENSP00000457067.1:p.Ser155=
NM_052874.4:c.717T>C NP_443106.1:p.Ser239=
XM_017022893.1:c.699T>C XP_016878382.1:p.Ser233=
NM_052874.5:c.717T>C MANE Select NP_443106.1:p.Ser239=