Canonical Allele Identifier: CA319422444

Gene: SYNJ1

Linked Data

• ClinVar Variation Id: 1126754
• ClinVar RCV Id: RCV001458911
• dbSNP Id: rs1017765033
• gnomAD v4: 21-32643463-T-C
• MyVariant Identifiers: chr21:g.34015773T>C (hg19) ; chr21:g.32643463T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32643463T>C , CM000683.2:g.32643463T>C	GRCh38
NC_000021.8:g.34015773T>C , CM000683.1:g.34015773T>C	GRCh37
NC_000021.7:g.32937644T>C	NCBI36
NG_030017.1:g.89579A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382499.7:c.3548-6A>G	ENSP00000371939.2:n.3548-6A>G
ENST00000433931.7:c.3548-6A>G	ENSP00000409667.2:n.3548-6A>G
ENST00000630077.3:c.3377-1497A>G	ENSP00000487560.1:n.3377-1497A>G
ENST00000674204.1:c.3431-6A>G	ENSP00000501504.1:n.3431-6A>G
ENST00000674308.1:c.3431-6A>G	ENSP00000501426.1:n.3431-6A>G
ENST00000674351.1:c.3431-6A>G MANE Select	ENSP00000501530.1:n.3431-6A>G
ENST00000357345.7:c.3431-1330A>G	ENSP00000349903.3:n.3431-1330A>G
ENST00000382491.7:c.3377-1497A>G	ENSP00000371931.4:n.3377-1497A>G
ENST00000382499.6:c.3548-6A>G	ENSP00000371939.2:n.3548-6A>G
ENST00000433931.6:c.3548-6A>G	ENSP00000409667.2:n.3548-6A>G
ENST00000438952.5:c.105-1330A>G
ENST00000630077.2:c.3377-1497A>G	ENSP00000487560.1:n.3377-1497A>G
NM_001160302.1:c.3431-1330A>G	NP_001153774.1:n.3431-1330A>G
NM_001160306.1:c.3377-1497A>G	NP_001153778.1:n.3377-1497A>G
NM_003895.3:c.3548-6A>G	NP_003886.3:n.3548-6A>G
NM_203446.2:c.3548-6A>G	NP_982271.2:n.3548-6A>G
XM_017028494.1:c.3431-1330A>G	XP_016883983.1:n.3431-1330A>G
XM_017028495.2:c.3533-6A>G	XP_016883984.1:n.3533-6A>G
XM_017028496.1:c.3392-1330A>G	XP_016883985.1:n.3392-1330A>G
XM_017028497.2:c.3548-1330A>G	XP_016883986.1:n.3548-1330A>G
XM_017028498.1:c.3392-1497A>G	XP_016883987.1:n.3392-1497A>G
XM_017028499.2:c.3494-1497A>G	XP_016883988.1:n.3494-1497A>G
XM_017028500.1:c.3431-6A>G	XP_016883989.1:n.3431-6A>G
XM_017028501.1:c.3431-6A>G	XP_016883990.1:n.3431-6A>G
XM_017028502.1:c.3431-1330A>G	XP_016883991.1:n.3431-1330A>G
XM_017028503.1:c.3392-1330A>G	XP_016883992.1:n.3392-1330A>G
XM_017028504.1:c.3392-1497A>G	XP_016883993.1:n.3392-1497A>G
XM_017028505.2:c.3494-1497A>G	XP_016883994.1:n.3494-1497A>G
NM_001160306.2:c.3377-1497A>G	NP_001153778.1:n.3377-1497A>G
NM_203446.3:c.3431-6A>G MANE Select	NP_982271.3:n.3431-6A>G