Canonical Allele Identifier: CA512331506

Gene: SYNJ1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32631115C>A , CM000683.2:g.32631115C>A	GRCh38
NC_000021.8:g.34003425C>A , CM000683.1:g.34003425C>A	GRCh37
NC_000021.7:g.32925296C>A	NCBI36
NG_030017.1:g.101927G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382499.7:c.4743G>T	ENSP00000371939.2:n.4743G>T
ENST00000433931.7:c.4719G>T	ENSP00000409667.2:p.Pro1573=
ENST00000630077.3:c.4461G>T	ENSP00000487560.1:p.Pro1487=
ENST00000674204.1:c.*690G>T	ENSP00000501504.1:n.*690G>T
ENST00000674308.1:c.4602G>T	ENSP00000501426.1:p.Pro1534=
ENST00000674351.1:c.*690G>T MANE Select	ENSP00000501530.1:n.*690G>T
ENST00000357345.7:c.*690G>T	ENSP00000349903.3:n.*690G>T
ENST00000382491.7:c.*690G>T	ENSP00000371931.4:n.*690G>T
ENST00000382499.6:c.4743G>T	ENSP00000371939.2:n.4743G>T
ENST00000433931.6:c.4719G>T	ENSP00000409667.2:p.Pro1573=
ENST00000438952.5:c.1252G>T
ENST00000630077.2:c.4461G>T	ENSP00000487560.1:p.Pro1487=
NM_001160302.1:c.*690G>T	NP_001153774.1:n.*690G>T
NM_001160306.1:c.4461G>T	NP_001153778.1:p.Pro1487=
NM_003895.3:c.4719G>T	NP_003886.3:p.Pro1573=
NM_203446.2:c.4743G>T	NP_982271.2:n.4743G>T
XM_017028494.1:c.4554G>T	XP_016883983.1:p.Pro1518=
XM_017028495.2:c.4704G>T	XP_016883984.1:p.Pro1568=
XM_017028496.1:c.4515G>T	XP_016883985.1:p.Pro1505=
XM_017028497.2:c.4671G>T	XP_016883986.1:p.Pro1557=
XM_017028498.1:c.4476G>T	XP_016883987.1:p.Pro1492=
XM_017028499.2:c.4578G>T	XP_016883988.1:p.Pro1526=
XM_017028500.1:c.*690G>T	XP_016883989.1:n.*690G>T
XM_017028501.1:c.*690G>T	XP_016883990.1:n.*690G>T
XM_017028502.1:c.*690G>T	XP_016883991.1:n.*690G>T
XM_017028503.1:c.*690G>T	XP_016883992.1:n.*690G>T
XM_017028504.1:c.*690G>T	XP_016883993.1:n.*690G>T
XM_017028505.2:c.*690G>T	XP_016883994.1:n.*690G>T
NM_001160306.2:c.4461G>T	NP_001153778.1:p.Pro1487=
NM_203446.3:c.*690G>T MANE Select	NP_982271.3:n.*690G>T