Canonical Allele Identifier: CA421738095

Gene: SELL FIRRM

Linked Data

• MyVariant Identifiers: chr1:g.169676556T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707415T>A , CM000663.2:g.169707415T>A	GRCh38
NC_000001.10:g.169676556T>A , CM000663.1:g.169676556T>A	GRCh37
NC_000001.9:g.167943180T>A	NCBI36
NG_016132.1:g.9288A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.507A>T (SELL) MANE Select	ENSP00000236147.5:p.Gly169=
ENST00000650983.1:c.546A>T (SELL)	ENSP00000498227.1:p.Gly182=
ENST00000236147.4:c.546A>T (SELL)	ENSP00000236147.4:p.Gly182=
ENST00000463108.5:n.707A>T (SELL)
ENST00000466340.1:n.519A>T (SELL)
ENST00000479657.5:n.259A>T (SELL)
ENST00000498289.5:n.851+23483T>A (FIRRM)
NM_000655.4:c.546A>T (SELL)	NP_000646.2:p.Gly182=
NR_029467.1:n.475A>T (SELL)
NM_000655.5:c.507A>T (SELL) MANE Select	NP_000646.3:p.Gly169=
NR_029467.2:n.476A>T (SELL)