Canonical Allele Identifier: CA516353454

Gene: SYN1

Linked Data

• MyVariant Identifiers: chrX:g.47433592T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574193T>A , CM000685.2:g.47574193T>A	GRCh38
NC_000023.10:g.47433592T>A , CM000685.1:g.47433592T>A	GRCh37
NC_000023.9:g.47318536T>A	NCBI36
NG_008437.1:g.50665A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1791A>T MANE Select	ENSP00000295987.7:p.Pro597=
ENST00000340666.5:c.1791A>T	ENSP00000343206.4:p.Pro597=
ENST00000640721.1:c.70+495A>T	ENSP00000492857.1:n.70+495A>T
ENST00000295987.11:c.1791A>T	ENSP00000295987.7:p.Pro597=
ENST00000340666.4:c.1791A>T	ENSP00000343206.4:p.Pro597=
NM_006950.3:c.1791A>T MANE Select	NP_008881.2:p.Pro597=
NM_133499.2:c.1791A>T	NP_598006.1:p.Pro597=