Canonical Allele Identifier: CA2573152353

Gene: STX1B

Linked Data

• ClinVar Variation Id: 1691871
• ClinVar RCV Id: RCV002256960
• dbSNP Id: rs2143661528

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30993214_30993215insCGGTCAATGT , CM000678.2:g.30993214_30993215insCGGTCAATGT	GRCh38
NC_000016.9:g.31004535_31004536insCGGTCAATGT , CM000678.1:g.31004535_31004536insCGGTCAATGT	GRCh37
NC_000016.8:g.30912036_30912037insCGGTCAATGT	NCBI36
NG_041829.1:g.22294_22295insACATTGACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215095.11:c.701_702insACATTGACCG MANE Select	ENSP00000215095.5:p.Tyr234Ter
ENST00000565419.2:c.701_702insACATTGACCG	ENSP00000455899.1:p.Tyr234Ter
ENST00000215095.9:c.701_702insACATTGACCG	ENSP00000215095.5:p.Tyr234Ter
ENST00000565419.1:c.701_702insACATTGACCG	ENSP00000455899.1:p.Tyr234Ter
ENST00000569638.5:c.449_450insACATTGACCG	ENSP00000457067.1:p.Tyr150Ter
NM_052874.4:c.701_702insACATTGACCG	NP_443106.1:p.Tyr234Ter
XM_017022893.1:c.683_684insACATTGACCG	XP_016878382.1:p.Tyr228Ter
NM_052874.5:c.701_702insACATTGACCG MANE Select	NP_443106.1:p.Tyr234Ter