Canonical Allele Identifier: CA16609238
Gene: SYNJ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393359
ClinVar RCV Id: RCV000445368 RCV001266775
dbSNP Id: rs1057524879
MyVariant Identifiers: chr21:g.34038874del (hg19) chr21:g.32666564del (hg38)
PubMed: PMID:27435091
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.32666564del , CM000683.2:g.32666564del GRCh38
NC_000021.8:g.34038874del , CM000683.1:g.34038874del GRCh37
NC_000021.7:g.32960745del NCBI36
NG_030017.1:g.66478del

Transcript Alleles

HGVS Amino-acid change
ENST00000382499.7:c.1938del ENSP00000371939.2:p.Gln647ArgfsTer6
ENST00000433931.7:c.1938del ENSP00000409667.2:p.Gln647ArgfsTer6
ENST00000630077.3:c.1806del ENSP00000487560.1:p.Gln603ArgfsTer6
ENST00000674204.1:c.1821del ENSP00000501504.1:p.Gln608ArgfsTer6
ENST00000674308.1:c.1821del ENSP00000501426.1:p.Gln608ArgfsTer6
ENST00000674351.1:c.1821del MANE Select ENSP00000501530.1:p.Gln608ArgfsTer6
ENST00000357345.7:c.1821del ENSP00000349903.3:p.Gln608ArgfsTer6
ENST00000382491.7:c.1806del ENSP00000371931.4:p.Gln603ArgfsTer6
ENST00000382499.6:c.1938del ENSP00000371939.2:p.Gln647ArgfsTer6
ENST00000429236.5:c.1806del ENSP00000413649.1:p.Gln603ArgfsTer6
ENST00000433931.6:c.1938del ENSP00000409667.2:p.Gln647ArgfsTer6
ENST00000630077.2:c.1806del ENSP00000487560.1:p.Gln603ArgfsTer6
NM_001160302.1:c.1821del NP_001153774.1:p.Gln608ArgfsTer6
NM_001160306.1:c.1806del NP_001153778.1:p.Gln603ArgfsTer6
NM_003895.3:c.1938del NP_003886.3:p.Gln647ArgfsTer6
NM_203446.2:c.1938del NP_982271.2:p.Gln647ArgfsTer6
XM_017028494.1:c.1821del XP_016883983.1:p.Gln608ArgfsTer6
XM_017028495.2:c.1923del XP_016883984.1:p.Gln642ArgfsTer6
XM_017028496.1:c.1821del XP_016883985.1:p.Gln608ArgfsTer6
XM_017028497.2:c.1938del XP_016883986.1:p.Gln647ArgfsTer6
XM_017028498.1:c.1821del XP_016883987.1:p.Gln608ArgfsTer6
XM_017028499.2:c.1923del XP_016883988.1:p.Gln642ArgfsTer6
XM_017028500.1:c.1821del XP_016883989.1:p.Gln608ArgfsTer6
XM_017028501.1:c.1821del XP_016883990.1:p.Gln608ArgfsTer6
XM_017028502.1:c.1821del XP_016883991.1:p.Gln608ArgfsTer6
XM_017028503.1:c.1821del XP_016883992.1:p.Gln608ArgfsTer6
XM_017028504.1:c.1821del XP_016883993.1:p.Gln608ArgfsTer6
XM_017028505.2:c.1923del XP_016883994.1:p.Gln642ArgfsTer6
NM_001160306.2:c.1806del NP_001153778.1:p.Gln603ArgfsTer6
NM_203446.3:c.1821del MANE Select NP_982271.3:p.Gln608ArgfsTer6
Search 100 bp 5'
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