Canonical Allele Identifier: CA512150823
Gene: SYNJ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2949932
ClinVar RCV Id: RCV003807290
MyVariant Identifiers: chr21:g.34100346C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.32728035C>T , CM000683.2:g.32728035C>T GRCh38
NC_000021.8:g.34100346C>T , CM000683.1:g.34100346C>T GRCh37
NC_000021.7:g.33022217C>T NCBI36
NG_030017.1:g.5006G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382499.7:c.6G>A ENSP00000371939.2:p.Arg2=
ENST00000433931.7:c.6G>A ENSP00000409667.2:p.Arg2=
ENST00000382491.7:c.-112G>A ENSP00000371931.4:n.-112G>A
ENST00000382499.6:c.6G>A ENSP00000371939.2:p.Arg2=
ENST00000433931.6:c.6G>A ENSP00000409667.2:p.Arg2=
NM_003895.3:c.6G>A NP_003886.3:p.Arg2=
NM_203446.2:c.6G>A NP_982271.2:p.Arg2=
XM_017028495.2:c.6G>A XP_016883984.1:p.Arg2=
XM_017028497.2:c.6G>A XP_016883986.1:p.Arg2=
XM_017028499.2:c.6G>A XP_016883988.1:p.Arg2=
XM_017028505.2:c.6G>A XP_016883994.1:p.Arg2=