Canonical Allele Identifier: CA343138960

Gene: SELL FIRRM

Linked Data

• dbSNP Id: rs1571133097
• MyVariant Identifiers: chr1:g.169676515T>C (hg19) ; chr1:g.169707374T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707374T>C , CM000663.2:g.169707374T>C	GRCh38
NC_000001.10:g.169676515T>C , CM000663.1:g.169676515T>C	GRCh37
NC_000001.9:g.167943139T>C	NCBI36
NG_016132.1:g.9329A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.548A>G (SELL) MANE Select	ENSP00000236147.5:p.Asp183Gly
ENST00000650983.1:c.587A>G (SELL)	ENSP00000498227.1:p.Asp196Gly
ENST00000236147.4:c.587A>G (SELL)	ENSP00000236147.4:p.Asp196Gly
ENST00000463108.5:n.748A>G (SELL)
ENST00000466340.1:n.560A>G (SELL)
ENST00000479657.5:n.300A>G (SELL)
ENST00000498289.5:n.851+23442T>C (FIRRM)
NM_000655.4:c.587A>G (SELL)	NP_000646.2:p.Asp196Gly
NR_029467.1:n.516A>G (SELL)
NM_000655.5:c.548A>G (SELL) MANE Select	NP_000646.3:p.Asp183Gly
NR_029467.2:n.517A>G (SELL)