Canonical Allele Identifier: CA410081120

Gene: SYNJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32631161T>C , CM000683.2:g.32631161T>C	GRCh38
NC_000021.8:g.34003471T>C , CM000683.1:g.34003471T>C	GRCh37
NC_000021.7:g.32925342T>C	NCBI36
NG_030017.1:g.101881A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_203446.3:c.*644A>G MANE Select	NP_982271.3:n.*644A>G
ENST00000674351.1:c.*644A>G MANE Select	ENSP00000501530.1:n.*644A>G
NM_001160302.1:c.*644A>G	NP_001153774.1:n.*644A>G
NM_001160306.1:c.4415A>G	NP_001153778.1:p.Asn1472Ser
NM_001160306.2:c.4415A>G	NP_001153778.1:p.Asn1472Ser
NM_003895.3:c.4673A>G	NP_003886.3:p.Asn1558Ser
NM_203446.2:c.4697A>G	NP_982271.2:n.4697A>G
ENST00000357345.7:c.*644A>G	ENSP00000349903.3:n.*644A>G
ENST00000382491.7:c.*644A>G	ENSP00000371931.4:n.*644A>G
ENST00000382499.6:c.4697A>G	ENSP00000371939.2:n.4697A>G
ENST00000382499.7:c.4697A>G	ENSP00000371939.2:n.4697A>G
ENST00000433931.6:c.4673A>G	ENSP00000409667.2:p.Asn1558Ser
ENST00000433931.7:c.4673A>G	ENSP00000409667.2:p.Asn1558Ser
ENST00000438952.5:c.1206A>G
ENST00000630077.2:c.4415A>G	ENSP00000487560.1:p.Asn1472Ser
ENST00000630077.3:c.4415A>G	ENSP00000487560.1:p.Asn1472Ser
ENST00000674204.1:c.*644A>G	ENSP00000501504.1:n.*644A>G
ENST00000674308.1:c.4556A>G	ENSP00000501426.1:p.Asn1519Ser
XM_017028494.1:c.4508A>G	XP_016883983.1:p.Asn1503Ser
XM_017028495.2:c.4658A>G	XP_016883984.1:p.Asn1553Ser
XM_017028496.1:c.4469A>G	XP_016883985.1:p.Asn1490Ser
XM_017028497.2:c.4625A>G	XP_016883986.1:p.Asn1542Ser
XM_017028498.1:c.4430A>G	XP_016883987.1:p.Asn1477Ser
XM_017028499.2:c.4532A>G	XP_016883988.1:p.Asn1511Ser
XM_017028500.1:c.*644A>G	XP_016883989.1:n.*644A>G
XM_017028501.1:c.*644A>G	XP_016883990.1:n.*644A>G
XM_017028502.1:c.*644A>G	XP_016883991.1:n.*644A>G
XM_017028503.1:c.*644A>G	XP_016883992.1:n.*644A>G
XM_017028504.1:c.*644A>G	XP_016883993.1:n.*644A>G
XM_017028505.2:c.*644A>G	XP_016883994.1:n.*644A>G