Canonical Allele Identifier: CA412820606

Gene: SYN1

Linked Data

• gnomAD v4: X-47572951-C-T
• MyVariant Identifiers: chrX:g.47432350C>T (hg19) ; chrX:g.47572951C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47572951C>T , CM000685.2:g.47572951C>T	GRCh38
NC_000023.10:g.47432350C>T , CM000685.1:g.47432350C>T	GRCh37
NC_000023.9:g.47317294C>T	NCBI36
NG_008437.1:g.51907G>A
NG_016339.1:g.16835C>T
NG_016339.2:g.16835C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.2031G>A MANE Select	ENSP00000295987.7:p.Pro677=
ENST00000340666.5:c.1993G>A	ENSP00000343206.4:p.Ala665Thr
ENST00000640721.1:c.81G>A	ENSP00000492857.1:p.Pro27=
ENST00000295987.11:c.2031G>A	ENSP00000295987.7:p.Pro677=
ENST00000340666.4:c.1993G>A	ENSP00000343206.4:p.Ala665Thr
NM_006950.3:c.2031G>A MANE Select	NP_008881.2:p.Pro677=
NM_133499.2:c.1993G>A	NP_598006.1:p.Ala665Thr