Canonical Allele Identifier: CA343138864

Gene: SELL FIRRM

Linked Data

• MyVariant Identifiers: chr1:g.169676491C>A (hg19) ; chr1:g.169707350C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707350C>A , CM000663.2:g.169707350C>A	GRCh38
NC_000001.10:g.169676491C>A , CM000663.1:g.169676491C>A	GRCh37
NC_000001.9:g.167943115C>A	NCBI36
NG_016132.1:g.9353G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.572G>T (SELL) MANE Select	ENSP00000236147.5:p.Cys191Phe
ENST00000650983.1:c.611G>T (SELL)	ENSP00000498227.1:p.Cys204Phe
ENST00000236147.4:c.611G>T (SELL)	ENSP00000236147.4:p.Cys204Phe
ENST00000463108.5:n.772G>T (SELL)
ENST00000466340.1:n.584G>T (SELL)
ENST00000479657.5:n.324G>T (SELL)
ENST00000498289.5:n.851+23418C>A (FIRRM)
NM_000655.4:c.611G>T (SELL)	NP_000646.2:p.Cys204Phe
NR_029467.1:n.540G>T (SELL)
NM_000655.5:c.572G>T (SELL) MANE Select	NP_000646.3:p.Cys191Phe
NR_029467.2:n.541G>T (SELL)