Canonical Allele Identifier: CA2693703332
Gene: SYP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49191422C>A , CM000685.2:g.49191422C>A GRCh38
NC_000023.10:g.49047879C>A , CM000685.1:g.49047879C>A GRCh37
NC_000023.9:g.48934823C>A NCBI36
NG_012532.1:g.13783G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000689634.1:n.2544G>T
ENST00000692723.1:n.972+11G>T
ENST00000263233.9:c.*4+11G>T MANE Select ENSP00000263233.4:n.*4+11G>T
ENST00000263233.8:c.*4+11G>T ENSP00000263233.4:n.*4+11G>T
ENST00000376303.6:c.*698+11G>T ENSP00000365480.2:n.*698+11G>T
ENST00000472598.5:c.615+11G>T
ENST00000479808.5:c.*15G>T ENSP00000418169.1:n.*15G>T
NM_003179.2:c.*4+11G>T NP_003170.1:n.*4+11G>T
XM_011543950.1:c.*4+11G>T XP_011542252.1:n.*4+11G>T
XM_011543951.1:c.*4+11G>T XP_011542253.1:n.*4+11G>T
NM_003179.3:c.*4+11G>T MANE Select NP_003170.1:n.*4+11G>T