Canonical Allele Identifier: CA343138879

Gene: SELL FIRRM

Linked Data

• MyVariant Identifiers: chr1:g.169676494T>A (hg19) ; chr1:g.169707353T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707353T>A , CM000663.2:g.169707353T>A	GRCh38
NC_000001.10:g.169676494T>A , CM000663.1:g.169676494T>A	GRCh37
NC_000001.9:g.167943118T>A	NCBI36
NG_016132.1:g.9350A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236147.6:c.569A>T (SELL) MANE Select	ENSP00000236147.5:p.Gln190Leu
ENST00000650983.1:c.608A>T (SELL)	ENSP00000498227.1:p.Gln203Leu
ENST00000236147.4:c.608A>T (SELL)	ENSP00000236147.4:p.Gln203Leu
ENST00000463108.5:n.769A>T (SELL)
ENST00000466340.1:n.581A>T (SELL)
ENST00000479657.5:n.321A>T (SELL)
ENST00000498289.5:n.851+23421T>A (FIRRM)
NM_000655.4:c.608A>T (SELL)	NP_000646.2:p.Gln203Leu
NR_029467.1:n.537A>T (SELL)
NM_000655.5:c.569A>T (SELL) MANE Select	NP_000646.3:p.Gln190Leu
NR_029467.2:n.538A>T (SELL)