Canonical Allele Identifier: CA16609345

Gene: SYNJ1

Linked Data

• ClinVar Variation Id: 393356
• ClinVar RCV Id: RCV000445361
• dbSNP Id: rs1060499619
• MyVariant Identifiers: chr21:g.34053900C>G (hg19) ; chr21:g.32681590C>G (hg38)
• PubMed: PMID:27496670

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32681590C>G , CM000683.2:g.32681590C>G	GRCh38
NC_000021.8:g.34053900C>G , CM000683.1:g.34053900C>G	GRCh37
NC_000021.7:g.32975771C>G	NCBI36
NG_030017.1:g.51452G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382499.7:c.1376G>C	ENSP00000371939.2:p.Arg459Pro
ENST00000433931.7:c.1376G>C	ENSP00000409667.2:p.Arg459Pro
ENST00000630077.3:c.1259G>C	ENSP00000487560.1:p.Arg420Pro
ENST00000674204.1:c.1259G>C	ENSP00000501504.1:p.Arg420Pro
ENST00000674308.1:c.1259G>C	ENSP00000501426.1:p.Arg420Pro
ENST00000674351.1:c.1259G>C MANE Select	ENSP00000501530.1:p.Arg420Pro
ENST00000357345.7:c.1259G>C	ENSP00000349903.3:p.Arg420Pro
ENST00000382491.7:c.1259G>C	ENSP00000371931.4:p.Arg420Pro
ENST00000382499.6:c.1376G>C	ENSP00000371939.2:p.Arg459Pro
ENST00000429236.5:c.1259G>C	ENSP00000413649.1:p.Arg420Pro
ENST00000433931.6:c.1376G>C	ENSP00000409667.2:p.Arg459Pro
ENST00000630077.2:c.1259G>C	ENSP00000487560.1:p.Arg420Pro
NM_001160302.1:c.1259G>C	NP_001153774.1:p.Arg420Pro
NM_001160306.1:c.1259G>C	NP_001153778.1:p.Arg420Pro
NM_003895.3:c.1376G>C	NP_003886.3:p.Arg459Pro
NM_203446.2:c.1376G>C	NP_982271.2:p.Arg459Pro
XM_017028494.1:c.1259G>C	XP_016883983.1:p.Arg420Pro
XM_017028495.2:c.1376G>C	XP_016883984.1:p.Arg459Pro
XM_017028496.1:c.1259G>C	XP_016883985.1:p.Arg420Pro
XM_017028497.2:c.1376G>C	XP_016883986.1:p.Arg459Pro
XM_017028498.1:c.1259G>C	XP_016883987.1:p.Arg420Pro
XM_017028499.2:c.1376G>C	XP_016883988.1:p.Arg459Pro
XM_017028500.1:c.1259G>C	XP_016883989.1:p.Arg420Pro
XM_017028501.1:c.1259G>C	XP_016883990.1:p.Arg420Pro
XM_017028502.1:c.1259G>C	XP_016883991.1:p.Arg420Pro
XM_017028503.1:c.1259G>C	XP_016883992.1:p.Arg420Pro
XM_017028504.1:c.1259G>C	XP_016883993.1:p.Arg420Pro
XM_017028505.2:c.1376G>C	XP_016883994.1:p.Arg459Pro
NM_001160306.2:c.1259G>C	NP_001153778.1:p.Arg420Pro
NM_203446.3:c.1259G>C MANE Select	NP_982271.3:p.Arg420Pro