Canonical Allele Identifier: CA421738144

Gene: SELL FIRRM

Linked Data

• MyVariant Identifiers: chr1:g.169676580C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707439C>T , CM000663.2:g.169707439C>T	GRCh38
NC_000001.10:g.169676580C>T , CM000663.1:g.169676580C>T	GRCh37
NC_000001.9:g.167943204C>T	NCBI36
NG_016132.1:g.9264G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.483G>A (SELL) MANE Select	ENSP00000236147.5:p.Gln161=
ENST00000650983.1:c.522G>A (SELL)	ENSP00000498227.1:p.Gln174=
ENST00000236147.4:c.522G>A (SELL)	ENSP00000236147.4:p.Gln174=
ENST00000463108.5:n.683G>A (SELL)
ENST00000466340.1:n.495G>A (SELL)
ENST00000479657.5:n.235G>A (SELL)
ENST00000498289.5:n.851+23507C>T (FIRRM)
NM_000655.4:c.522G>A (SELL)	NP_000646.2:p.Gln174=
NR_029467.1:n.451G>A (SELL)
NM_000655.5:c.483G>A (SELL) MANE Select	NP_000646.3:p.Gln161=
NR_029467.2:n.452G>A (SELL)