Canonical Allele Identifier: CA412820501

Gene: SYN1

Linked Data

• MyVariant Identifiers: chrX:g.47432334T>A (hg19) ; chrX:g.47572935T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47572935T>A , CM000685.2:g.47572935T>A	GRCh38
NC_000023.10:g.47432334T>A , CM000685.1:g.47432334T>A	GRCh37
NC_000023.9:g.47317278T>A	NCBI36
NG_008437.1:g.51923A>T
NG_016339.1:g.16819T>A
NG_016339.2:g.16819T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.2047A>T MANE Select	ENSP00000295987.7:p.Ser683Cys
ENST00000340666.5:c.2009A>T	ENSP00000343206.4:p.Ter670Leu
ENST00000640721.1:c.97A>T	ENSP00000492857.1:p.Ser33Cys
ENST00000295987.11:c.2047A>T	ENSP00000295987.7:p.Ser683Cys
ENST00000340666.4:c.2009A>T	ENSP00000343206.4:p.Ter670Leu
NM_006950.3:c.2047A>T MANE Select	NP_008881.2:p.Ser683Cys
NM_133499.2:c.2009A>T	NP_598006.1:p.Ter670Leu