Canonical Allele Identifier: CA10003152

Gene: SYNJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32631573G>A , CM000683.2:g.32631573G>A	GRCh38
NC_000021.8:g.34003883G>A , CM000683.1:g.34003883G>A	GRCh37
NC_000021.7:g.32925754G>A	NCBI36
NG_030017.1:g.101469C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382499.7:c.4285C>T	ENSP00000371939.2:n.4285C>T
ENST00000433931.7:c.4261C>T	ENSP00000409667.2:p.Arg1421Trp
ENST00000630077.3:c.4003C>T	ENSP00000487560.1:p.Arg1335Trp
ENST00000674204.1:c.*232C>T	ENSP00000501504.1:n.*232C>T
ENST00000674308.1:c.4144C>T	ENSP00000501426.1:p.Arg1382Trp
ENST00000674351.1:c.*232C>T MANE Select	ENSP00000501530.1:n.*232C>T
ENST00000357345.7:c.*232C>T	ENSP00000349903.3:n.*232C>T
ENST00000382491.7:c.*232C>T	ENSP00000371931.4:n.*232C>T
ENST00000382499.6:c.4285C>T	ENSP00000371939.2:n.4285C>T
ENST00000433931.6:c.4261C>T	ENSP00000409667.2:p.Arg1421Trp
ENST00000438952.5:c.794C>T
ENST00000630077.2:c.4003C>T	ENSP00000487560.1:p.Arg1335Trp
NM_001160302.1:c.*232C>T	NP_001153774.1:n.*232C>T
NM_001160306.1:c.4003C>T	NP_001153778.1:p.Arg1335Trp
NM_003895.3:c.4261C>T	NP_003886.3:p.Arg1421Trp
NM_203446.2:c.4285C>T	NP_982271.2:n.4285C>T
XM_017028494.1:c.4096C>T	XP_016883983.1:p.Arg1366Trp
XM_017028495.2:c.4246C>T	XP_016883984.1:p.Arg1416Trp
XM_017028496.1:c.4057C>T	XP_016883985.1:p.Arg1353Trp
XM_017028497.2:c.4213C>T	XP_016883986.1:p.Arg1405Trp
XM_017028498.1:c.4018C>T	XP_016883987.1:p.Arg1340Trp
XM_017028499.2:c.4120C>T	XP_016883988.1:p.Arg1374Trp
XM_017028500.1:c.*232C>T	XP_016883989.1:n.*232C>T
XM_017028501.1:c.*232C>T	XP_016883990.1:n.*232C>T
XM_017028502.1:c.*232C>T	XP_016883991.1:n.*232C>T
XM_017028503.1:c.*232C>T	XP_016883992.1:n.*232C>T
XM_017028504.1:c.*232C>T	XP_016883993.1:n.*232C>T
XM_017028505.2:c.*232C>T	XP_016883994.1:n.*232C>T
NM_001160306.2:c.4003C>T	NP_001153778.1:p.Arg1335Trp
NM_203446.3:c.*232C>T MANE Select	NP_982271.3:n.*232C>T