Canonical Allele Identifier: CA412822523
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47574179-C-A
MyVariant Identifiers: chrX:g.47433578C>A (hg19) chrX:g.47574179C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574179C>A , CM000685.2:g.47574179C>A GRCh38
NC_000023.10:g.47433578C>A , CM000685.1:g.47433578C>A GRCh37
NC_000023.9:g.47318522C>A NCBI36
NG_008437.1:g.50679G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1805G>T MANE Select ENSP00000295987.7:p.Arg602Leu
ENST00000340666.5:c.1805G>T ENSP00000343206.4:p.Arg602Leu
ENST00000640721.1:c.70+509G>T ENSP00000492857.1:n.70+509G>T
ENST00000295987.11:c.1805G>T ENSP00000295987.7:p.Arg602Leu
ENST00000340666.4:c.1805G>T ENSP00000343206.4:p.Arg602Leu
NM_006950.3:c.1805G>T MANE Select NP_008881.2:p.Arg602Leu
NM_133499.2:c.1805G>T NP_598006.1:p.Arg602Leu
Search 100 bp 5'
Search 100 bp 3'