Canonical Allele Identifier: CA875818701

Gene: SYN1

Linked Data

• dbSNP Id: rs1367441188
• gnomAD v3: X-47573064-AAC-A
• gnomAD v4: X-47573064-AAC-A
• MyVariant Identifiers: chrX:g.47432464_47432465del (hg19) ; chrX:g.47573065_47573066del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573068_47573069del , CM000685.2:g.47573068_47573069del	GRCh38
NC_000023.10:g.47432467_47432468del , CM000685.1:g.47432467_47432468del	GRCh37
NC_000023.9:g.47317411_47317412del	NCBI36
NG_008437.1:g.51792_51793del
NG_016339.1:g.16952_16953del
NG_016339.2:g.16952_16953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1983-67_1983-66del MANE Select	ENSP00000295987.7:n.1983-67_1983-66del
ENST00000340666.5:c.1983-105_1983-104del	ENSP00000343206.4:n.1983-105_1983-104del
ENST00000640721.1:c.71-105_71-104del	ENSP00000492857.1:n.71-105_71-104del
ENST00000295987.11:c.1983-67_1983-66del	ENSP00000295987.7:n.1983-67_1983-66del
ENST00000340666.4:c.1983-105_1983-104del	ENSP00000343206.4:n.1983-105_1983-104del
NM_006950.3:c.1983-67_1983-66del MANE Select	NP_008881.2:n.1983-67_1983-66del
NM_133499.2:c.1983-105_1983-104del	NP_598006.1:n.1983-105_1983-104del