Canonical Allele Identifier: CA410066718

Gene: SYNJ1

Linked Data

• MyVariant Identifiers: chr21:g.34015725A>T (hg19) ; chr21:g.32643415A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32643415A>T , CM000683.2:g.32643415A>T	GRCh38
NC_000021.8:g.34015725A>T , CM000683.1:g.34015725A>T	GRCh37
NC_000021.7:g.32937596A>T	NCBI36
NG_030017.1:g.89627T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382499.7:c.3590T>A	ENSP00000371939.2:p.Met1197Lys
ENST00000433931.7:c.3590T>A	ENSP00000409667.2:p.Met1197Lys
ENST00000630077.3:c.3377-1449T>A	ENSP00000487560.1:n.3377-1449T>A
ENST00000674204.1:c.3473T>A	ENSP00000501504.1:p.Met1158Lys
ENST00000674308.1:c.3473T>A	ENSP00000501426.1:p.Met1158Lys
ENST00000674351.1:c.3473T>A MANE Select	ENSP00000501530.1:p.Met1158Lys
ENST00000357345.7:c.3431-1282T>A	ENSP00000349903.3:n.3431-1282T>A
ENST00000382491.7:c.3377-1449T>A	ENSP00000371931.4:n.3377-1449T>A
ENST00000382499.6:c.3590T>A	ENSP00000371939.2:p.Met1197Lys
ENST00000433931.6:c.3590T>A	ENSP00000409667.2:p.Met1197Lys
ENST00000438952.5:c.105-1282T>A
ENST00000630077.2:c.3377-1449T>A	ENSP00000487560.1:n.3377-1449T>A
NM_001160302.1:c.3431-1282T>A	NP_001153774.1:n.3431-1282T>A
NM_001160306.1:c.3377-1449T>A	NP_001153778.1:n.3377-1449T>A
NM_003895.3:c.3590T>A	NP_003886.3:p.Met1197Lys
NM_203446.2:c.3590T>A	NP_982271.2:p.Met1197Lys
XM_017028494.1:c.3431-1282T>A	XP_016883983.1:n.3431-1282T>A
XM_017028495.2:c.3575T>A	XP_016883984.1:p.Met1192Lys
XM_017028496.1:c.3392-1282T>A	XP_016883985.1:n.3392-1282T>A
XM_017028497.2:c.3548-1282T>A	XP_016883986.1:n.3548-1282T>A
XM_017028498.1:c.3392-1449T>A	XP_016883987.1:n.3392-1449T>A
XM_017028499.2:c.3494-1449T>A	XP_016883988.1:n.3494-1449T>A
XM_017028500.1:c.3473T>A	XP_016883989.1:p.Met1158Lys
XM_017028501.1:c.3473T>A	XP_016883990.1:p.Met1158Lys
XM_017028502.1:c.3431-1282T>A	XP_016883991.1:n.3431-1282T>A
XM_017028503.1:c.3392-1282T>A	XP_016883992.1:n.3392-1282T>A
XM_017028504.1:c.3392-1449T>A	XP_016883993.1:n.3392-1449T>A
XM_017028505.2:c.3494-1449T>A	XP_016883994.1:n.3494-1449T>A
NM_001160306.2:c.3377-1449T>A	NP_001153778.1:n.3377-1449T>A
NM_203446.3:c.3473T>A MANE Select	NP_982271.3:p.Met1158Lys