Canonical Allele Identifier: CA412820437

Gene: SYN1

Linked Data

• MyVariant Identifiers: chrX:g.47432319T>A (hg19) ; chrX:g.47572920T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47572920T>A , CM000685.2:g.47572920T>A	GRCh38
NC_000023.10:g.47432319T>A , CM000685.1:g.47432319T>A	GRCh37
NC_000023.9:g.47317263T>A	NCBI36
NG_008437.1:g.51938A>T
NG_016339.1:g.16804T>A
NG_016339.2:g.16804T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.2062A>T MANE Select	ENSP00000295987.7:p.Lys688Ter
ENST00000340666.5:c.*14A>T	ENSP00000343206.4:n.*14A>T
ENST00000640721.1:c.112A>T	ENSP00000492857.1:p.Lys38Ter
ENST00000295987.11:c.2062A>T	ENSP00000295987.7:p.Lys688Ter
ENST00000340666.4:c.*14A>T	ENSP00000343206.4:n.*14A>T
NM_006950.3:c.2062A>T MANE Select	NP_008881.2:p.Lys688Ter
NM_133499.2:c.*14A>T	NP_598006.1:n.*14A>T