Canonical Allele Identifier: CA343139190

Gene: SELL FIRRM

Linked Data

• MyVariant Identifiers: chr1:g.169676576A>G (hg19) ; chr1:g.169707435A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707435A>G , CM000663.2:g.169707435A>G	GRCh38
NC_000001.10:g.169676576A>G , CM000663.1:g.169676576A>G	GRCh37
NC_000001.9:g.167943200A>G	NCBI36
NG_016132.1:g.9268T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.487T>C (SELL) MANE Select	ENSP00000236147.5:p.Trp163Arg
ENST00000650983.1:c.526T>C (SELL)	ENSP00000498227.1:p.Trp176Arg
ENST00000236147.4:c.526T>C (SELL)	ENSP00000236147.4:p.Trp176Arg
ENST00000463108.5:n.687T>C (SELL)
ENST00000466340.1:n.499T>C (SELL)
ENST00000479657.5:n.239T>C (SELL)
ENST00000498289.5:n.851+23503A>G (FIRRM)
NM_000655.4:c.526T>C (SELL)	NP_000646.2:p.Trp176Arg
NR_029467.1:n.455T>C (SELL)
NM_000655.5:c.487T>C (SELL) MANE Select	NP_000646.3:p.Trp163Arg
NR_029467.2:n.456T>C (SELL)