Canonical Allele Identifier: CA388437440
Gene: SLITRK1 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.83879731T>C
GRCh37 chr13:g.84453866T>C
Revel Score:
ENST00000377084 0.248
gnomAD v2:
13:84453866 T / C
gnomAD v3:
13:83879731 T / C
gnomAD v4:
chr13-83879731-T-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.83879731T>C , CM000675.2:g.83879731T>C GRCh38
NC_000013.10:g.84453866T>C , CM000675.1:g.84453866T>C GRCh37
NC_000013.9:g.83351867T>C NCBI36
NG_016748.1:g.7663A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000674365.1:c.1777A>G MANE Select ENSP00000501349.1:p.Ser593Gly
ENST00000377084.3:c.1777A>G ENSP00000366288.2:p.Ser593Gly
NM_001281503.1:c.1777A>G NP_001268432.1:p.Ser593Gly
NM_052910.2:c.1777A>G NP_443142.1:p.Ser593Gly
NM_001281503.2:c.1777A>G MANE Select NP_001268432.1:p.Ser593Gly
Search 100 bp 5'
Search 100 bp 3'