Canonical Allele Identifier: CA875818699

Gene: SYN1

Linked Data

• dbSNP Id: rs1349139487
• gnomAD v3: X-47573048-G-GGGAA
• gnomAD v4: X-47573048-G-GGGAA
• MyVariant Identifiers: chrX:g.47432447_47432448insGGAA (hg19) ; chrX:g.47573048_47573049insGGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573049_47573050insGAAG , CM000685.2:g.47573049_47573050insGAAG	GRCh38
NC_000023.10:g.47432448_47432449insGAAG , CM000685.1:g.47432448_47432449insGAAG	GRCh37
NC_000023.9:g.47317392_47317393insGAAG	NCBI36
NG_008437.1:g.51809_51810insTTCC
NG_016339.1:g.16933_16934insGAAG
NG_016339.2:g.16933_16934insGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1983-50_1983-49insTTCC MANE Select	ENSP00000295987.7:n.1983-50_1983-49insTTCC
ENST00000340666.5:c.1983-88_1983-87insTTCC	ENSP00000343206.4:n.1983-88_1983-87insTTCC
ENST00000640721.1:c.71-88_71-87insTTCC	ENSP00000492857.1:n.71-88_71-87insTTCC
ENST00000295987.11:c.1983-50_1983-49insTTCC	ENSP00000295987.7:n.1983-50_1983-49insTTCC
ENST00000340666.4:c.1983-88_1983-87insTTCC	ENSP00000343206.4:n.1983-88_1983-87insTTCC
NM_006950.3:c.1983-50_1983-49insTTCC MANE Select	NP_008881.2:n.1983-50_1983-49insTTCC
NM_133499.2:c.1983-88_1983-87insTTCC	NP_598006.1:n.1983-88_1983-87insTTCC