Canonical Allele Identifier: CA7014672
Gene: SLITRK1 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.83880256T>A
GRCh37 chr13:g.84454391T>A
Revel Score:
ENST00000377084 0.145
gnomAD v2:
13:84454391 T / A
gnomAD v3:
13:83880256 T / A
gnomAD v4:
chr13-83880256-T-A
Joint Max Group AF 0.00146409 (NFE)
Genomes Max Group AF 0.00156225 (NFE)
Exomes Max Group AF 0.00144401 (NFE)
ClinVar RCV:
RCV003919709
ClinVar Variation:
3038222
dbSNP:
150504822
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.83880256T>A , CM000675.2:g.83880256T>A GRCh38
NC_000013.10:g.84454391T>A , CM000675.1:g.84454391T>A GRCh37
NC_000013.9:g.83352392T>A NCBI36
NG_016748.1:g.7138A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000674365.1:c.1252A>T MANE Select ENSP00000501349.1:p.Thr418Ser
ENST00000377084.3:c.1252A>T ENSP00000366288.2:p.Thr418Ser
NM_001281503.1:c.1252A>T NP_001268432.1:p.Thr418Ser
NM_052910.2:c.1252A>T NP_443142.1:p.Thr418Ser
NM_001281503.2:c.1252A>T MANE Select NP_001268432.1:p.Thr418Ser
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