Canonical Allele Identifier: CA319422840
Gene: SYNJ1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.32645747T>C , CM000683.2:g.32645747T>C GRCh38
NC_000021.8:g.34018057T>C , CM000683.1:g.34018057T>C GRCh37
NC_000021.7:g.32939928T>C NCBI36
NG_030017.1:g.87295A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382499.7:c.3407A>G ENSP00000371939.2:p.Lys1136Arg
ENST00000433931.7:c.3407A>G ENSP00000409667.2:p.Lys1136Arg
ENST00000630077.3:c.3275A>G ENSP00000487560.1:p.Lys1092Arg
ENST00000674204.1:c.3290A>G ENSP00000501504.1:p.Lys1097Arg
ENST00000674308.1:c.3290A>G ENSP00000501426.1:p.Lys1097Arg
ENST00000674351.1:c.3290A>G MANE Select ENSP00000501530.1:p.Lys1097Arg
ENST00000357345.7:c.3290A>G ENSP00000349903.3:p.Lys1097Arg
ENST00000382491.7:c.3275A>G ENSP00000371931.4:p.Lys1092Arg
ENST00000382499.6:c.3407A>G ENSP00000371939.2:p.Lys1136Arg
ENST00000433931.6:c.3407A>G ENSP00000409667.2:p.Lys1136Arg
ENST00000630077.2:c.3275A>G ENSP00000487560.1:p.Lys1092Arg
NM_001160302.1:c.3290A>G NP_001153774.1:p.Lys1097Arg
NM_001160306.1:c.3275A>G NP_001153778.1:p.Lys1092Arg
NM_003895.3:c.3407A>G NP_003886.3:p.Lys1136Arg
NM_203446.2:c.3407A>G NP_982271.2:p.Lys1136Arg
XM_017028494.1:c.3290A>G XP_016883983.1:p.Lys1097Arg
XM_017028495.2:c.3392A>G XP_016883984.1:p.Lys1131Arg
XM_017028496.1:c.3290A>G XP_016883985.1:p.Lys1097Arg
XM_017028497.2:c.3407A>G XP_016883986.1:p.Lys1136Arg
XM_017028498.1:c.3290A>G XP_016883987.1:p.Lys1097Arg
XM_017028499.2:c.3392A>G XP_016883988.1:p.Lys1131Arg
XM_017028500.1:c.3290A>G XP_016883989.1:p.Lys1097Arg
XM_017028501.1:c.3290A>G XP_016883990.1:p.Lys1097Arg
XM_017028502.1:c.3290A>G XP_016883991.1:p.Lys1097Arg
XM_017028503.1:c.3290A>G XP_016883992.1:p.Lys1097Arg
XM_017028504.1:c.3290A>G XP_016883993.1:p.Lys1097Arg
XM_017028505.2:c.3392A>G XP_016883994.1:p.Lys1131Arg
NM_001160306.2:c.3275A>G NP_001153778.1:p.Lys1092Arg
NM_203446.3:c.3290A>G MANE Select NP_982271.3:p.Lys1097Arg