Canonical Allele Identifier: CA343139176

Gene: SELL FIRRM

Linked Data

• MyVariant Identifiers: chr1:g.169676569C>G (hg19) ; chr1:g.169707428C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707428C>G , CM000663.2:g.169707428C>G	GRCh38
NC_000001.10:g.169676569C>G , CM000663.1:g.169676569C>G	GRCh37
NC_000001.9:g.167943193C>G	NCBI36
NG_016132.1:g.9275G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.494G>C (SELL) MANE Select	ENSP00000236147.5:p.Cys165Ser
ENST00000650983.1:c.533G>C (SELL)	ENSP00000498227.1:p.Cys178Ser
ENST00000236147.4:c.533G>C (SELL)	ENSP00000236147.4:p.Cys178Ser
ENST00000463108.5:n.694G>C (SELL)
ENST00000466340.1:n.506G>C (SELL)
ENST00000479657.5:n.246G>C (SELL)
ENST00000498289.5:n.851+23496C>G (FIRRM)
NM_000655.4:c.533G>C (SELL)	NP_000646.2:p.Cys178Ser
NR_029467.1:n.462G>C (SELL)
NM_000655.5:c.494G>C (SELL) MANE Select	NP_000646.3:p.Cys165Ser
NR_029467.2:n.463G>C (SELL)