Canonical Allele Identifier: CA410074415
Gene: SYNJ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1958471
ClinVar RCV Id: RCV002696097
dbSNP Id: rs560413403

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.32657063G>C , CM000683.2:g.32657063G>C GRCh38
NC_000021.8:g.34029373G>C , CM000683.1:g.34029373G>C GRCh37
NC_000021.7:g.32951244G>C NCBI36
NG_030017.1:g.75979C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382499.7:c.2636C>G ENSP00000371939.2:p.Thr879Arg
ENST00000433931.7:c.2636C>G ENSP00000409667.2:p.Thr879Arg
ENST00000630077.3:c.2504C>G ENSP00000487560.1:p.Thr835Arg
ENST00000674204.1:c.2519C>G ENSP00000501504.1:p.Thr840Arg
ENST00000674308.1:c.2519C>G ENSP00000501426.1:p.Thr840Arg
ENST00000674351.1:c.2519C>G MANE Select ENSP00000501530.1:p.Thr840Arg
ENST00000357345.7:c.2519C>G ENSP00000349903.3:p.Thr840Arg
ENST00000382491.7:c.2504C>G ENSP00000371931.4:p.Thr835Arg
ENST00000382499.6:c.2636C>G ENSP00000371939.2:p.Thr879Arg
ENST00000433931.6:c.2636C>G ENSP00000409667.2:p.Thr879Arg
ENST00000464778.1:n.306C>G
ENST00000630077.2:c.2504C>G ENSP00000487560.1:p.Thr835Arg
NM_001160302.1:c.2519C>G NP_001153774.1:p.Thr840Arg
NM_001160306.1:c.2504C>G NP_001153778.1:p.Thr835Arg
NM_003895.3:c.2636C>G NP_003886.3:p.Thr879Arg
NM_203446.2:c.2636C>G NP_982271.2:p.Thr879Arg
XM_017028494.1:c.2519C>G XP_016883983.1:p.Thr840Arg
XM_017028495.2:c.2621C>G XP_016883984.1:p.Thr874Arg
XM_017028496.1:c.2519C>G XP_016883985.1:p.Thr840Arg
XM_017028497.2:c.2636C>G XP_016883986.1:p.Thr879Arg
XM_017028498.1:c.2519C>G XP_016883987.1:p.Thr840Arg
XM_017028499.2:c.2621C>G XP_016883988.1:p.Thr874Arg
XM_017028500.1:c.2519C>G XP_016883989.1:p.Thr840Arg
XM_017028501.1:c.2519C>G XP_016883990.1:p.Thr840Arg
XM_017028502.1:c.2519C>G XP_016883991.1:p.Thr840Arg
XM_017028503.1:c.2519C>G XP_016883992.1:p.Thr840Arg
XM_017028504.1:c.2519C>G XP_016883993.1:p.Thr840Arg
XM_017028505.2:c.2621C>G XP_016883994.1:p.Thr874Arg
NM_001160306.2:c.2504C>G NP_001153778.1:p.Thr835Arg
NM_203446.3:c.2519C>G MANE Select NP_982271.3:p.Thr840Arg