Canonical Allele Identifier: CA343139124

Gene: SELL FIRRM

Linked Data

• MyVariant Identifiers: chr1:g.169676550A>C (hg19) ; chr1:g.169707409A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707409A>C , CM000663.2:g.169707409A>C	GRCh38
NC_000001.10:g.169676550A>C , CM000663.1:g.169676550A>C	GRCh37
NC_000001.9:g.167943174A>C	NCBI36
NG_016132.1:g.9294T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.513T>G (SELL) MANE Select	ENSP00000236147.5:p.Cys171Trp
ENST00000650983.1:c.552T>G (SELL)	ENSP00000498227.1:p.Cys184Trp
ENST00000236147.4:c.552T>G (SELL)	ENSP00000236147.4:p.Cys184Trp
ENST00000463108.5:n.713T>G (SELL)
ENST00000466340.1:n.525T>G (SELL)
ENST00000479657.5:n.265T>G (SELL)
ENST00000498289.5:n.851+23477A>C (FIRRM)
NM_000655.4:c.552T>G (SELL)	NP_000646.2:p.Cys184Trp
NR_029467.1:n.481T>G (SELL)
NM_000655.5:c.513T>G (SELL) MANE Select	NP_000646.3:p.Cys171Trp
NR_029467.2:n.482T>G (SELL)