Canonical Allele Identifier: CA421738044

Gene: SELL FIRRM

Linked Data

• dbSNP Id: rs2101980721
• MyVariant Identifiers: chr1:g.169676511C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707370C>G , CM000663.2:g.169707370C>G	GRCh38
NC_000001.10:g.169676511C>G , CM000663.1:g.169676511C>G	GRCh37
NC_000001.9:g.167943135C>G	NCBI36
NG_016132.1:g.9333G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.552G>C (SELL) MANE Select	ENSP00000236147.5:p.Val184=
ENST00000650983.1:c.591G>C (SELL)	ENSP00000498227.1:p.Val197=
ENST00000236147.4:c.591G>C (SELL)	ENSP00000236147.4:p.Val197=
ENST00000463108.5:n.752G>C (SELL)
ENST00000466340.1:n.564G>C (SELL)
ENST00000479657.5:n.304G>C (SELL)
ENST00000498289.5:n.851+23438C>G (FIRRM)
NM_000655.4:c.591G>C (SELL)	NP_000646.2:p.Val197=
NR_029467.1:n.520G>C (SELL)
NM_000655.5:c.552G>C (SELL) MANE Select	NP_000646.3:p.Val184=
NR_029467.2:n.521G>C (SELL)