Canonical Allele Identifier: CA10409699
Gene: SYP HGNC NCBI

Linked Data

ClinVar Variation Id: 368465
dbSNP Id: rs139475570
gnomAD v2: X-49047959-C-T
gnomAD v3: X-49191502-C-T
gnomAD v4: X-49191502-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49191502C>T , CM000685.2:g.49191502C>T GRCh38
NC_000023.10:g.49047959C>T , CM000685.1:g.49047959C>T GRCh37
NC_000023.9:g.48934903C>T NCBI36
NG_012532.1:g.13703G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000689634.1:n.2464G>A
ENST00000692723.1:n.903G>A
ENST00000263233.9:c.877G>A MANE Select ENSP00000263233.4:p.Gly293Ser
ENST00000263233.8:c.877G>A ENSP00000263233.4:p.Gly293Ser
ENST00000376303.6:c.*629G>A ENSP00000365480.2:n.*629G>A
ENST00000472598.5:c.546G>A
ENST00000479808.5:c.877G>A ENSP00000418169.1:p.Gly293Ser
NM_003179.2:c.877G>A NP_003170.1:p.Gly293Ser
XM_011543950.1:c.556G>A XP_011542252.1:p.Gly186Ser
XM_011543951.1:c.523G>A XP_011542253.1:p.Gly175Ser
NM_003179.3:c.877G>A MANE Select NP_003170.1:p.Gly293Ser