Canonical Allele Identifier: CA343138875

Gene: SELL FIRRM

Linked Data

• MyVariant Identifiers: chr1:g.169676493C>A (hg19) ; chr1:g.169707352C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707352C>A , CM000663.2:g.169707352C>A	GRCh38
NC_000001.10:g.169676493C>A , CM000663.1:g.169676493C>A	GRCh37
NC_000001.9:g.167943117C>A	NCBI36
NG_016132.1:g.9351G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236147.6:c.570G>T (SELL) MANE Select	ENSP00000236147.5:p.Gln190His
ENST00000650983.1:c.609G>T (SELL)	ENSP00000498227.1:p.Gln203His
ENST00000236147.4:c.609G>T (SELL)	ENSP00000236147.4:p.Gln203His
ENST00000463108.5:n.770G>T (SELL)
ENST00000466340.1:n.582G>T (SELL)
ENST00000479657.5:n.322G>T (SELL)
ENST00000498289.5:n.851+23420C>A (FIRRM)
NM_000655.4:c.609G>T (SELL)	NP_000646.2:p.Gln203His
NR_029467.1:n.538G>T (SELL)
NM_000655.5:c.570G>T (SELL) MANE Select	NP_000646.3:p.Gln190His
NR_029467.2:n.539G>T (SELL)