Canonical Allele Identifier: CA1235765
Gene: SELL HGNC NCBI
FIRRM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169707345A>G
GRCh37 chr1:g.169676486A>G
Revel Score:
ENST00000236147 (MANE Select) 0.295
gnomAD v2:
1:169676486 A / G
gnomAD v3:
1:169707345 A / G
gnomAD v4:
chr1-169707345-A-G
Joint Max Group AF 0.27247894 (NFE)
Genomes Max Group AF 0.26683797 (NFE)
Exomes Max Group AF 0.27264952 (NFE)
dbSNP:
1131498
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169707345A>G , CM000663.2:g.169707345A>G GRCh38
NC_000001.10:g.169676486A>G , CM000663.1:g.169676486A>G GRCh37
NC_000001.9:g.167943110A>G NCBI36
NG_016132.1:g.9358T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000236147.6:c.577T>C (SELL) MANE Select ENSP00000236147.5:p.Phe193Leu
ENST00000650983.1:c.616T>C (SELL) ENSP00000498227.1:p.Phe206Leu
ENST00000236147.4:c.616T>C (SELL) ENSP00000236147.4:p.Phe206Leu
ENST00000463108.5:n.777T>C (SELL)
ENST00000466340.1:n.589T>C (SELL)
ENST00000479657.5:n.329T>C (SELL)
ENST00000498289.5:n.851+23413A>G (FIRRM)
NM_000655.4:c.616T>C (SELL) NP_000646.2:p.Phe206Leu
NR_029467.1:n.545T>C (SELL)
NM_000655.5:c.577T>C (SELL) MANE Select NP_000646.3:p.Phe193Leu
NR_029467.2:n.546T>C (SELL)
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