Canonical Allele Identifier: CA412820687

Gene: SYN1

Linked Data

• MyVariant Identifiers: chrX:g.47432363G>A (hg19) ; chrX:g.47572964G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47572964G>A , CM000685.2:g.47572964G>A	GRCh38
NC_000023.10:g.47432363G>A , CM000685.1:g.47432363G>A	GRCh37
NC_000023.9:g.47317307G>A	NCBI36
NG_008437.1:g.51894C>T
NG_016339.1:g.16848G>A
NG_016339.2:g.16848G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295987.13:c.2018C>T MANE Select	ENSP00000295987.7:p.Pro673Leu
ENST00000340666.5:c.1983-3C>T	ENSP00000343206.4:n.1983-3C>T
ENST00000640721.1:c.71-3C>T	ENSP00000492857.1:n.71-3C>T
ENST00000295987.11:c.2018C>T	ENSP00000295987.7:p.Pro673Leu
ENST00000340666.4:c.1983-3C>T	ENSP00000343206.4:n.1983-3C>T
NM_006950.3:c.2018C>T MANE Select	NP_008881.2:p.Pro673Leu
NM_133499.2:c.1983-3C>T	NP_598006.1:n.1983-3C>T