Canonical Allele Identifier: CA875955162
Gene: SYP HGNC NCBI
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

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