Canonical Allele Identifier: CA658658885

Gene: SYNJ1

Linked Data

• ClinVar Variation Id: 478332
• ClinVar RCV Id: RCV000538615
• dbSNP Id: rs1555896707

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32666451_32666452delinsCT , CM000683.2:g.32666451_32666452delinsCT	GRCh38
NC_000021.8:g.34038761_34038762delinsCT , CM000683.1:g.34038761_34038762delinsCT	GRCh37
NC_000021.7:g.32960632_32960633delinsCT	NCBI36
NG_030017.1:g.66590_66591delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382499.7:c.2050_2051delinsAG	ENSP00000371939.2:p.Gln684Arg
ENST00000433931.7:c.2050_2051delinsAG	ENSP00000409667.2:p.Gln684Arg
ENST00000630077.3:c.1918_1919delinsAG	ENSP00000487560.1:p.Gln640Arg
ENST00000674204.1:c.1933_1934delinsAG	ENSP00000501504.1:p.Gln645Arg
ENST00000674308.1:c.1933_1934delinsAG	ENSP00000501426.1:p.Gln645Arg
ENST00000674351.1:c.1933_1934delinsAG MANE Select	ENSP00000501530.1:p.Gln645Arg
ENST00000357345.7:c.1933_1934delinsAG	ENSP00000349903.3:p.Gln645Arg
ENST00000382491.7:c.1918_1919delinsAG	ENSP00000371931.4:p.Gln640Arg
ENST00000382499.6:c.2050_2051delinsAG	ENSP00000371939.2:p.Gln684Arg
ENST00000429236.5:c.1918_1919delinsAG	ENSP00000413649.1:p.Gln640Arg
ENST00000433931.6:c.2050_2051delinsAG	ENSP00000409667.2:p.Gln684Arg
ENST00000630077.2:c.1918_1919delinsAG	ENSP00000487560.1:p.Gln640Arg
NM_001160302.1:c.1933_1934delinsAG	NP_001153774.1:p.Gln645Arg
NM_001160306.1:c.1918_1919delinsAG	NP_001153778.1:p.Gln640Arg
NM_003895.3:c.2050_2051delinsAG	NP_003886.3:p.Gln684Arg
NM_203446.2:c.2050_2051delinsAG	NP_982271.2:p.Gln684Arg
XM_017028494.1:c.1933_1934delinsAG	XP_016883983.1:p.Gln645Arg
XM_017028495.2:c.2035_2036delinsAG	XP_016883984.1:p.Gln679Arg
XM_017028496.1:c.1933_1934delinsAG	XP_016883985.1:p.Gln645Arg
XM_017028497.2:c.2050_2051delinsAG	XP_016883986.1:p.Gln684Arg
XM_017028498.1:c.1933_1934delinsAG	XP_016883987.1:p.Gln645Arg
XM_017028499.2:c.2035_2036delinsAG	XP_016883988.1:p.Gln679Arg
XM_017028500.1:c.1933_1934delinsAG	XP_016883989.1:p.Gln645Arg
XM_017028501.1:c.1933_1934delinsAG	XP_016883990.1:p.Gln645Arg
XM_017028502.1:c.1933_1934delinsAG	XP_016883991.1:p.Gln645Arg
XM_017028503.1:c.1933_1934delinsAG	XP_016883992.1:p.Gln645Arg
XM_017028504.1:c.1933_1934delinsAG	XP_016883993.1:p.Gln645Arg
XM_017028505.2:c.2035_2036delinsAG	XP_016883994.1:p.Gln679Arg
NM_001160306.2:c.1918_1919delinsAG	NP_001153778.1:p.Gln640Arg
NM_203446.3:c.1933_1934delinsAG MANE Select	NP_982271.3:p.Gln645Arg