Canonical Allele Identifier: CA343138885

Gene: SELL FIRRM

Linked Data

• MyVariant Identifiers: chr1:g.169676495G>T (hg19) ; chr1:g.169707354G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707354G>T , CM000663.2:g.169707354G>T	GRCh38
NC_000001.10:g.169676495G>T , CM000663.1:g.169676495G>T	GRCh37
NC_000001.9:g.167943119G>T	NCBI36
NG_016132.1:g.9349C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.568C>A (SELL) MANE Select	ENSP00000236147.5:p.Gln190Lys
ENST00000650983.1:c.607C>A (SELL)	ENSP00000498227.1:p.Gln203Lys
ENST00000236147.4:c.607C>A (SELL)	ENSP00000236147.4:p.Gln203Lys
ENST00000463108.5:n.768C>A (SELL)
ENST00000466340.1:n.580C>A (SELL)
ENST00000479657.5:n.320C>A (SELL)
ENST00000498289.5:n.851+23422G>T (FIRRM)
NM_000655.4:c.607C>A (SELL)	NP_000646.2:p.Gln203Lys
NR_029467.1:n.536C>A (SELL)
NM_000655.5:c.568C>A (SELL) MANE Select	NP_000646.3:p.Gln190Lys
NR_029467.2:n.537C>A (SELL)