Canonical Allele Identifier: CA412820644

Gene: SYN1

Linked Data

• dbSNP Id: rs2057764659
• MyVariant Identifiers: chrX:g.47432357G>A (hg19) ; chrX:g.47572958G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47572958G>A , CM000685.2:g.47572958G>A	GRCh38
NC_000023.10:g.47432357G>A , CM000685.1:g.47432357G>A	GRCh37
NC_000023.9:g.47317301G>A	NCBI36
NG_008437.1:g.51900C>T
NG_016339.1:g.16842G>A
NG_016339.2:g.16842G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295987.13:c.2024C>T MANE Select	ENSP00000295987.7:p.Pro675Leu
ENST00000340666.5:c.1986C>T	ENSP00000343206.4:p.Ala662=
ENST00000640721.1:c.74C>T	ENSP00000492857.1:p.Pro25Leu
ENST00000295987.11:c.2024C>T	ENSP00000295987.7:p.Pro675Leu
ENST00000340666.4:c.1986C>T	ENSP00000343206.4:p.Ala662=
NM_006950.3:c.2024C>T MANE Select	NP_008881.2:p.Pro675Leu
NM_133499.2:c.1986C>T	NP_598006.1:p.Ala662=