Canonical Allele Identifier: CA10003075

Gene: SYNJ1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32631187T>C , CM000683.2:g.32631187T>C	GRCh38
NC_000021.8:g.34003497T>C , CM000683.1:g.34003497T>C	GRCh37
NC_000021.7:g.32925368T>C	NCBI36
NG_030017.1:g.101855A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382499.7:c.4671A>G	ENSP00000371939.2:n.4671A>G
ENST00000433931.7:c.4647A>G	ENSP00000409667.2:p.Ser1549=
ENST00000630077.3:c.4389A>G	ENSP00000487560.1:p.Ser1463=
ENST00000674204.1:c.*618A>G	ENSP00000501504.1:n.*618A>G
ENST00000674308.1:c.4530A>G	ENSP00000501426.1:p.Ser1510=
ENST00000674351.1:c.*618A>G MANE Select	ENSP00000501530.1:n.*618A>G
ENST00000357345.7:c.*618A>G	ENSP00000349903.3:n.*618A>G
ENST00000382491.7:c.*618A>G	ENSP00000371931.4:n.*618A>G
ENST00000382499.6:c.4671A>G	ENSP00000371939.2:n.4671A>G
ENST00000433931.6:c.4647A>G	ENSP00000409667.2:p.Ser1549=
ENST00000438952.5:c.1180A>G
ENST00000630077.2:c.4389A>G	ENSP00000487560.1:p.Ser1463=
NM_001160302.1:c.*618A>G	NP_001153774.1:n.*618A>G
NM_001160306.1:c.4389A>G	NP_001153778.1:p.Ser1463=
NM_003895.3:c.4647A>G	NP_003886.3:p.Ser1549=
NM_203446.2:c.4671A>G	NP_982271.2:n.4671A>G
XM_017028494.1:c.4482A>G	XP_016883983.1:p.Ser1494=
XM_017028495.2:c.4632A>G	XP_016883984.1:p.Ser1544=
XM_017028496.1:c.4443A>G	XP_016883985.1:p.Ser1481=
XM_017028497.2:c.4599A>G	XP_016883986.1:p.Ser1533=
XM_017028498.1:c.4404A>G	XP_016883987.1:p.Ser1468=
XM_017028499.2:c.4506A>G	XP_016883988.1:p.Ser1502=
XM_017028500.1:c.*618A>G	XP_016883989.1:n.*618A>G
XM_017028501.1:c.*618A>G	XP_016883990.1:n.*618A>G
XM_017028502.1:c.*618A>G	XP_016883991.1:n.*618A>G
XM_017028503.1:c.*618A>G	XP_016883992.1:n.*618A>G
XM_017028504.1:c.*618A>G	XP_016883993.1:n.*618A>G
XM_017028505.2:c.*618A>G	XP_016883994.1:n.*618A>G
NM_001160306.2:c.4389A>G	NP_001153778.1:p.Ser1463=
NM_203446.3:c.*618A>G MANE Select	NP_982271.3:n.*618A>G