Canonical Allele Identifier: CA395646977

Gene: STX1B

Linked Data

• gnomAD v4: 16-30993233-A-T
• MyVariant Identifiers: chr16:g.31004554A>T (hg19) ; chr16:g.30993233A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30993233A>T , CM000678.2:g.30993233A>T	GRCh38
NC_000016.9:g.31004554A>T , CM000678.1:g.31004554A>T	GRCh37
NC_000016.8:g.30912055A>T	NCBI36
NG_041829.1:g.22276T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215095.11:c.683T>A MANE Select	ENSP00000215095.5:p.Met228Lys
ENST00000565419.2:c.683T>A	ENSP00000455899.1:p.Met228Lys
ENST00000215095.9:c.683T>A	ENSP00000215095.5:p.Met228Lys
ENST00000565419.1:c.683T>A	ENSP00000455899.1:p.Met228Lys
ENST00000569638.5:c.431T>A	ENSP00000457067.1:p.Met144Lys
NM_052874.4:c.683T>A	NP_443106.1:p.Met228Lys
XM_017022893.1:c.665T>A	XP_016878382.1:p.Met222Lys
NM_052874.5:c.683T>A MANE Select	NP_443106.1:p.Met228Lys