Canonical Allele Identifier: CA412822602
Gene: SYN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574206T>A , CM000685.2:g.47574206T>A GRCh38
NC_000023.10:g.47433605T>A , CM000685.1:g.47433605T>A GRCh37
NC_000023.9:g.47318549T>A NCBI36
NG_008437.1:g.50652A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1778A>T MANE Select ENSP00000295987.7:p.Lys593Ile
ENST00000340666.5:c.1778A>T ENSP00000343206.4:p.Lys593Ile
ENST00000640721.1:c.70+482A>T ENSP00000492857.1:n.70+482A>T
ENST00000295987.11:c.1778A>T ENSP00000295987.7:p.Lys593Ile
ENST00000340666.4:c.1778A>T ENSP00000343206.4:p.Lys593Ile
NM_006950.3:c.1778A>T MANE Select NP_008881.2:p.Lys593Ile
NM_133499.2:c.1778A>T NP_598006.1:p.Lys593Ile