Canonical Allele Identifier: CA395646967

Gene: STX1B

Linked Data

• MyVariant Identifiers: chr16:g.31004552T>G (hg19) ; chr16:g.30993231T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30993231T>G , CM000678.2:g.30993231T>G	GRCh38
NC_000016.9:g.31004552T>G , CM000678.1:g.31004552T>G	GRCh37
NC_000016.8:g.30912053T>G	NCBI36
NG_041829.1:g.22278A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215095.11:c.685A>C MANE Select	ENSP00000215095.5:p.Ile229Leu
ENST00000565419.2:c.685A>C	ENSP00000455899.1:p.Ile229Leu
ENST00000215095.9:c.685A>C	ENSP00000215095.5:p.Ile229Leu
ENST00000565419.1:c.685A>C	ENSP00000455899.1:p.Ile229Leu
ENST00000569638.5:c.433A>C	ENSP00000457067.1:p.Ile145Leu
NM_052874.4:c.685A>C	NP_443106.1:p.Ile229Leu
XM_017022893.1:c.667A>C	XP_016878382.1:p.Ile223Leu
NM_052874.5:c.685A>C MANE Select	NP_443106.1:p.Ile229Leu