Canonical Allele Identifier: CA343139210

Gene: SELL FIRRM

Linked Data

• gnomAD v4: 1-169707440-T-G
• MyVariant Identifiers: chr1:g.169676581T>G (hg19) ; chr1:g.169707440T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707440T>G , CM000663.2:g.169707440T>G	GRCh38
NC_000001.10:g.169676581T>G , CM000663.1:g.169676581T>G	GRCh37
NC_000001.9:g.167943205T>G	NCBI36
NG_016132.1:g.9263A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.482A>C (SELL) MANE Select	ENSP00000236147.5:p.Gln161Pro
ENST00000650983.1:c.521A>C (SELL)	ENSP00000498227.1:p.Gln174Pro
ENST00000236147.4:c.521A>C (SELL)	ENSP00000236147.4:p.Gln174Pro
ENST00000463108.5:n.682A>C (SELL)
ENST00000466340.1:n.494A>C (SELL)
ENST00000479657.5:n.234A>C (SELL)
ENST00000498289.5:n.851+23508T>G (FIRRM)
NM_000655.4:c.521A>C (SELL)	NP_000646.2:p.Gln174Pro
NR_029467.1:n.450A>C (SELL)
NM_000655.5:c.482A>C (SELL) MANE Select	NP_000646.3:p.Gln161Pro
NR_029467.2:n.451A>C (SELL)