Canonical Allele Identifier: CA10409699
Gene: SYP HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.49191502C>T
GRCh37 chrX:g.49047959C>T
Revel Score:
ENST00000263233 (MANE Select) 0.292
ENST00000538567 0.292
ENST00000479808 0.292
gnomAD v2:
X:49047959 C / T
gnomAD v3:
X:49191502 C / T
gnomAD v4:
chrX-49191502-C-T
Joint Max Group AF 0.00119089 (NFE)
Genomes Max Group AF 0.00142193 (NFE)
Exomes Max Group AF 0.00116074 (NFE)
ClinVar Allele:
339363
ClinVar RCV:
RCV000721022
RCV000964094
RCV001821129
ClinVar Variation:
368465
dbSNP:
139475570
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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
Search 100 bp 5'
Search 100 bp 3'