Canonical Allele Identifier: CA10004248

Gene: SYNJ1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32727931C>T , CM000683.2:g.32727931C>T	GRCh38
NC_000021.8:g.34100242C>T , CM000683.1:g.34100242C>T	GRCh37
NC_000021.7:g.33022113C>T	NCBI36
NG_030017.1:g.5110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382499.7:c.95+15G>A	ENSP00000371939.2:n.95+15G>A
ENST00000433931.7:c.95+15G>A	ENSP00000409667.2:n.95+15G>A
ENST00000674308.1:c.-23+15G>A	ENSP00000501426.1:n.-23+15G>A
ENST00000674351.1:c.-23+15G>A MANE Select	ENSP00000501530.1:n.-23+15G>A
ENST00000357345.7:c.-117G>A	ENSP00000349903.3:n.-117G>A
ENST00000382491.7:c.-23+15G>A	ENSP00000371931.4:n.-23+15G>A
ENST00000382499.6:c.95+15G>A	ENSP00000371939.2:n.95+15G>A
ENST00000429236.5:c.-117G>A	ENSP00000413649.1:n.-117G>A
ENST00000433931.6:c.95+15G>A	ENSP00000409667.2:n.95+15G>A
NM_001160302.1:c.-117G>A	NP_001153774.1:n.-117G>A
NM_001160306.1:c.-117G>A	NP_001153778.1:n.-117G>A
NM_003895.3:c.95+15G>A	NP_003886.3:n.95+15G>A
NM_203446.2:c.95+15G>A	NP_982271.2:n.95+15G>A
XM_017028495.2:c.95+15G>A	XP_016883984.1:n.95+15G>A
XM_017028497.2:c.95+15G>A	XP_016883986.1:n.95+15G>A
XM_017028499.2:c.95+15G>A	XP_016883988.1:n.95+15G>A
XM_017028505.2:c.95+15G>A	XP_016883994.1:n.95+15G>A
NM_203446.3:c.-23+15G>A MANE Select	NP_982271.3:n.-23+15G>A