Canonical Allele Identifier: CA1235753
Gene: SELL HGNC NCBI
FIRRM HGNC NCBI
COSMIC:
COSM3997063 (not active)
COSM3997064 (not active)
MyVariant.info:
GRCh38 chr1:g.169704697G>A
GRCh37 chr1:g.169673838G>A
Revel Score:
ENST00000236147 (MANE Select) 0.240
gnomAD v2:
1:169673838 G / A
gnomAD v3:
1:169704697 G / A
gnomAD v4:
chr1-169704697-G-A
Joint Max Group AF 0.29589605 (AMR)
Genomes Max Group AF 0.24028467 (AMR)
Exomes Max Group AF 0.3176325 (AMR)
dbSNP:
2229569
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000236147.6:c.637C>T (SELL) MANE Select ENSP00000236147.5:p.Pro213Ser
ENST00000650983.1:c.676C>T (SELL) ENSP00000498227.1:p.Pro226Ser
ENST00000236147.4:c.676C>T (SELL) ENSP00000236147.4:p.Pro226Ser
ENST00000460650.5:n.57C>T (SELL)
ENST00000463108.5:n.837C>T (SELL)
ENST00000479657.5:n.389C>T (SELL)
ENST00000498289.5:n.851+20765G>A (FIRRM)
NM_000655.4:c.676C>T (SELL) NP_000646.2:p.Pro226Ser
NR_029467.1:n.605C>T (SELL)
NM_000655.5:c.637C>T (SELL) MANE Select NP_000646.3:p.Pro213Ser
NR_029467.2:n.606C>T (SELL)
Search 100 bp 5'
Search 100 bp 3'