Canonical Allele Identifier: CA339899
Gene: SLITRK1 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.83878728C>T
GRCh37 chr13:g.84452863C>T
gnomAD v2:
13:84452863 C / T
gnomAD v3:
13:83878728 C / T
gnomAD v4:
chr13-83878728-C-T
Joint Max Group AF 0.00045237 (AMR)
Genomes Max Group AF 0.00045248 (AMR)
ClinVar RCV:
RCV000001646
ClinVar Variation:
1579
dbSNP:
191284403
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.83878728C>T , CM000675.2:g.83878728C>T GRCh38
NC_000013.10:g.84452863C>T , CM000675.1:g.84452863C>T GRCh37
NC_000013.9:g.83350864C>T NCBI36
NG_016748.1:g.8666G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000674365.1:c.*689G>A MANE Select ENSP00000501349.1:n.*689G>A
ENST00000377084.3:c.*689G>A ENSP00000366288.2:n.*689G>A
NM_001281503.1:c.*689G>A NP_001268432.1:n.*689G>A
NM_052910.2:c.*689G>A NP_443142.1:n.*689G>A
NM_001281503.2:c.*689G>A MANE Select NP_001268432.1:n.*689G>A
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