Canonical Allele Identifier: CA732150
Gene: HCRTR1 HGNC NCBI
COSMIC:
COSM1341730 (not active)
MyVariant.info:
GRCh38 chr1:g.31626924A>G
GRCh37 chr1:g.32092525A>G
Revel Score:
ENST00000403528 (MANE Select) 0.075
ENST00000373706 0.075
gnomAD v2:
1:32092525 A / G
gnomAD v3:
1:31626924 A / G
gnomAD v4:
chr1-31626924-A-G
Joint Max Group AF 0.62279459 (SAS)
Genomes Max Group AF 0.60691221 (NFE)
Exomes Max Group AF 0.62421706 (SAS)
dbSNP:
2271933
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.31626924A>G , CM000663.2:g.31626924A>G GRCh38
NC_000001.10:g.32092525A>G , CM000663.1:g.32092525A>G GRCh37
NC_000001.9:g.31865112A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000403528.7:c.1222A>G MANE Select ENSP00000384387.2:p.Ile408Val
ENST00000686354.1:n.1375A>G
ENST00000373705.1:c.1087+1806A>G ENSP00000362809.1:n.1087+1806A>G
ENST00000373706.9:c.1222A>G ENSP00000362810.5:p.Ile408Val
ENST00000403528.6:c.1222A>G ENSP00000384387.2:p.Ile408Val
ENST00000468521.1:n.1414-399A>G
NM_001525.2:c.1222A>G NP_001516.2:p.Ile408Val
XM_011541308.1:c.1222A>G XP_011539610.1:p.Ile408Val
XM_017001107.1:c.1087+1806A>G XP_016856596.1:n.1087+1806A>G
XM_024446602.1:c.1222A>G XP_024302370.1:p.Ile408Val
XM_024446603.1:c.1222A>G XP_024302371.1:p.Ile408Val
XM_024446604.1:c.1222A>G XP_024302372.1:p.Ile408Val
XM_024446605.1:c.1222A>G XP_024302373.1:p.Ile408Val
NM_001525.3:c.1222A>G MANE Select NP_001516.2:p.Ile408Val
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