Canonical Allele Identifier: CA395646814

Gene: STX1B

Linked Data

• MyVariant Identifiers: chr16:g.31004500G>C (hg19) ; chr16:g.30993179G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30993179G>C , CM000678.2:g.30993179G>C	GRCh38
NC_000016.9:g.31004500G>C , CM000678.1:g.31004500G>C	GRCh37
NC_000016.8:g.30912001G>C	NCBI36
NG_041829.1:g.22330C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215095.11:c.737C>G MANE Select	ENSP00000215095.5:p.Ala246Gly
ENST00000565419.2:c.737C>G	ENSP00000455899.1:p.Ala246Gly
ENST00000215095.9:c.737C>G	ENSP00000215095.5:p.Ala246Gly
ENST00000565419.1:c.737C>G	ENSP00000455899.1:p.Ala246Gly
ENST00000569638.5:c.485C>G	ENSP00000457067.1:p.Ala162Gly
NM_052874.4:c.737C>G	NP_443106.1:p.Ala246Gly
XM_017022893.1:c.719C>G	XP_016878382.1:p.Ala240Gly
NM_052874.5:c.737C>G MANE Select	NP_443106.1:p.Ala246Gly