Canonical Allele Identifier: CA343139198

Gene: SELL FIRRM

Linked Data

• gnomAD v4: 1-169707438-G-A
• MyVariant Identifiers: chr1:g.169676579G>A (hg19) ; chr1:g.169707438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707438G>A , CM000663.2:g.169707438G>A	GRCh38
NC_000001.10:g.169676579G>A , CM000663.1:g.169676579G>A	GRCh37
NC_000001.9:g.167943203G>A	NCBI36
NG_016132.1:g.9265C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.484C>T (SELL) MANE Select	ENSP00000236147.5:p.Pro162Ser
ENST00000650983.1:c.523C>T (SELL)	ENSP00000498227.1:p.Pro175Ser
ENST00000236147.4:c.523C>T (SELL)	ENSP00000236147.4:p.Pro175Ser
ENST00000463108.5:n.684C>T (SELL)
ENST00000466340.1:n.496C>T (SELL)
ENST00000479657.5:n.236C>T (SELL)
ENST00000498289.5:n.851+23506G>A (FIRRM)
NM_000655.4:c.523C>T (SELL)	NP_000646.2:p.Pro175Ser
NR_029467.1:n.452C>T (SELL)
NM_000655.5:c.484C>T (SELL) MANE Select	NP_000646.3:p.Pro162Ser
NR_029467.2:n.453C>T (SELL)