Canonical Allele Identifier: CA421738084

Gene: SELL FIRRM

Linked Data

• gnomAD v4: 1-169707406-T-C
• MyVariant Identifiers: chr1:g.169676547T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707406T>C , CM000663.2:g.169707406T>C	GRCh38
NC_000001.10:g.169676547T>C , CM000663.1:g.169676547T>C	GRCh37
NC_000001.9:g.167943171T>C	NCBI36
NG_016132.1:g.9297A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.516A>G (SELL) MANE Select	ENSP00000236147.5:p.Val172=
ENST00000650983.1:c.555A>G (SELL)	ENSP00000498227.1:p.Val185=
ENST00000236147.4:c.555A>G (SELL)	ENSP00000236147.4:p.Val185=
ENST00000463108.5:n.716A>G (SELL)
ENST00000466340.1:n.528A>G (SELL)
ENST00000479657.5:n.268A>G (SELL)
ENST00000498289.5:n.851+23474T>C (FIRRM)
NM_000655.4:c.555A>G (SELL)	NP_000646.2:p.Val185=
NR_029467.1:n.484A>G (SELL)
NM_000655.5:c.516A>G (SELL) MANE Select	NP_000646.3:p.Val172=
NR_029467.2:n.485A>G (SELL)