Canonical Allele Identifier: CA8018286
Gene: STX1B HGNC NCBI

Linked Data

dbSNP Id: rs768936456
ExAC: 16:31004555 T / G
gnomAD v2: 16-31004555-T-G
gnomAD v4: 16-30993234-T-G
MyVariant Identifiers: chr16:g.31004555T>G (hg19) chr16:g.30993234T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993234T>G , CM000678.2:g.30993234T>G GRCh38
NC_000016.9:g.31004555T>G , CM000678.1:g.31004555T>G GRCh37
NC_000016.8:g.30912056T>G NCBI36
NG_041829.1:g.22275A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.682A>C MANE Select ENSP00000215095.5:p.Met228Leu
ENST00000565419.2:c.682A>C ENSP00000455899.1:p.Met228Leu
ENST00000215095.9:c.682A>C ENSP00000215095.5:p.Met228Leu
ENST00000565419.1:c.682A>C ENSP00000455899.1:p.Met228Leu
ENST00000569638.5:c.430A>C ENSP00000457067.1:p.Met144Leu
NM_052874.4:c.682A>C NP_443106.1:p.Met228Leu
XM_017022893.1:c.664A>C XP_016878382.1:p.Met222Leu
NM_052874.5:c.682A>C MANE Select NP_443106.1:p.Met228Leu
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