Canonical Allele Identifier: CA343138936

Gene: SELL FIRRM

Linked Data

• dbSNP Id: rs1258091249
• gnomAD v2: 1-169676509-C-T
• MyVariant Identifiers: chr1:g.169676509C>T (hg19) ; chr1:g.169707368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707368C>T , CM000663.2:g.169707368C>T	GRCh38
NC_000001.10:g.169676509C>T , CM000663.1:g.169676509C>T	GRCh37
NC_000001.9:g.167943133C>T	NCBI36
NG_016132.1:g.9335G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.554G>A (SELL) MANE Select	ENSP00000236147.5:p.Gly185Glu
ENST00000650983.1:c.593G>A (SELL)	ENSP00000498227.1:p.Gly198Glu
ENST00000236147.4:c.593G>A (SELL)	ENSP00000236147.4:p.Gly198Glu
ENST00000463108.5:n.754G>A (SELL)
ENST00000466340.1:n.566G>A (SELL)
ENST00000479657.5:n.306G>A (SELL)
ENST00000498289.5:n.851+23436C>T (FIRRM)
NM_000655.4:c.593G>A (SELL)	NP_000646.2:p.Gly198Glu
NR_029467.1:n.522G>A (SELL)
NM_000655.5:c.554G>A (SELL) MANE Select	NP_000646.3:p.Gly185Glu
NR_029467.2:n.523G>A (SELL)