Canonical Allele Identifier: CA10398454
Gene: SYN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47576579G>A , CM000685.2:g.47576579G>A GRCh38
NC_000023.10:g.47435978G>A , CM000685.1:g.47435978G>A GRCh37
NC_000023.9:g.47320922G>A NCBI36
NG_008437.1:g.48279C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.899C>T MANE Select ENSP00000295987.7:p.Thr300Met
ENST00000340666.5:c.899C>T ENSP00000343206.4:p.Thr300Met
ENST00000295987.11:c.899C>T ENSP00000295987.7:p.Thr300Met
ENST00000340666.4:c.899C>T ENSP00000343206.4:p.Thr300Met
NM_006950.3:c.899C>T MANE Select NP_008881.2:p.Thr300Met
NM_133499.2:c.899C>T NP_598006.1:p.Thr300Met