Canonical Allele Identifier: CA412820668

Gene: SYN1

Linked Data

• MyVariant Identifiers: chrX:g.47432361C>A (hg19) ; chrX:g.47572962C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47572962C>A , CM000685.2:g.47572962C>A	GRCh38
NC_000023.10:g.47432361C>A , CM000685.1:g.47432361C>A	GRCh37
NC_000023.9:g.47317305C>A	NCBI36
NG_008437.1:g.51896G>T
NG_016339.1:g.16846C>A
NG_016339.2:g.16846C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295987.13:c.2020G>T MANE Select	ENSP00000295987.7:p.Glu674Ter
ENST00000340666.5:c.1983-1G>T	ENSP00000343206.4:n.1983-1G>T
ENST00000640721.1:c.71-1G>T	ENSP00000492857.1:n.71-1G>T
ENST00000295987.11:c.2020G>T	ENSP00000295987.7:p.Glu674Ter
ENST00000340666.4:c.1983-1G>T	ENSP00000343206.4:n.1983-1G>T
NM_006950.3:c.2020G>T MANE Select	NP_008881.2:p.Glu674Ter
NM_133499.2:c.1983-1G>T	NP_598006.1:n.1983-1G>T