Canonical Allele Identifier: CA1235754
Gene: SELL HGNC NCBI
FIRRM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169704697G>T
GRCh37 chr1:g.169673838G>T
Revel Score:
ENST00000236147 (MANE Select) 0.320
gnomAD v2:
1:169673838 G / T
gnomAD v3:
1:169704697 G / T
gnomAD v4:
chr1-169704697-G-T
Joint Max Group AF 8.2e-7 (NFE)
Exomes Max Group AF 7.4e-7 (NFE)
dbSNP:
2229569
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169704697G>T , CM000663.2:g.169704697G>T GRCh38
NC_000001.10:g.169673838G>T , CM000663.1:g.169673838G>T GRCh37
NC_000001.9:g.167940462G>T NCBI36
NG_016132.1:g.12006C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236147.6:c.637C>A (SELL) MANE Select ENSP00000236147.5:p.Pro213Thr
ENST00000650983.1:c.676C>A (SELL) ENSP00000498227.1:p.Pro226Thr
ENST00000236147.4:c.676C>A (SELL) ENSP00000236147.4:p.Pro226Thr
ENST00000460650.5:n.57C>A (SELL)
ENST00000463108.5:n.837C>A (SELL)
ENST00000479657.5:n.389C>A (SELL)
ENST00000498289.5:n.851+20765G>T (FIRRM)
NM_000655.4:c.676C>A (SELL) NP_000646.2:p.Pro226Thr
NR_029467.1:n.605C>A (SELL)
NM_000655.5:c.637C>A (SELL) MANE Select NP_000646.3:p.Pro213Thr
NR_029467.2:n.606C>A (SELL)
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