Canonical Allele Identifier: CA343138990

Gene: SELL FIRRM

Linked Data

• MyVariant Identifiers: chr1:g.169676521T>G (hg19) ; chr1:g.169707380T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707380T>G , CM000663.2:g.169707380T>G	GRCh38
NC_000001.10:g.169676521T>G , CM000663.1:g.169676521T>G	GRCh37
NC_000001.9:g.167943145T>G	NCBI36
NG_016132.1:g.9323A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.542A>C (SELL) MANE Select	ENSP00000236147.5:p.Asn181Thr
ENST00000650983.1:c.581A>C (SELL)	ENSP00000498227.1:p.Asn194Thr
ENST00000236147.4:c.581A>C (SELL)	ENSP00000236147.4:p.Asn194Thr
ENST00000463108.5:n.742A>C (SELL)
ENST00000466340.1:n.554A>C (SELL)
ENST00000479657.5:n.294A>C (SELL)
ENST00000498289.5:n.851+23448T>G (FIRRM)
NM_000655.4:c.581A>C (SELL)	NP_000646.2:p.Asn194Thr
NR_029467.1:n.510A>C (SELL)
NM_000655.5:c.542A>C (SELL) MANE Select	NP_000646.3:p.Asn181Thr
NR_029467.2:n.511A>C (SELL)