Canonical Allele Identifier: CA343155262

Gene: SELE FIRRM

Linked Data

• dbSNP Id: rs1648922347
• gnomAD v4: 1-169731927-G-A
• MyVariant Identifiers: chr1:g.169701068G>A (hg19) ; chr1:g.169731927G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731927G>A , CM000663.2:g.169731927G>A	GRCh38
NC_000001.10:g.169701068G>A , CM000663.1:g.169701068G>A	GRCh37
NC_000001.9:g.167967692G>A	NCBI36
NG_012124.1:g.7153C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333360.12:c.437C>T (SELE) MANE Select	ENSP00000331736.7:p.Thr146Ile
ENST00000333360.11:c.437C>T (SELE)	ENSP00000331736.7:p.Thr146Ile
ENST00000367774.1:c.437C>T (SELE)	ENSP00000356748.1:p.Thr146Ile
ENST00000367775.5:c.437C>T (SELE)	ENSP00000356749.1:p.Thr146Ile
ENST00000367776.5:c.437C>T (SELE)	ENSP00000356750.1:p.Thr146Ile
ENST00000367777.5:c.437C>T (SELE)	ENSP00000356751.1:p.Thr146Ile
ENST00000461085.1:n.120C>T (SELE)
ENST00000498289.5:n.851+47995G>A (FIRRM)
NM_000450.2:c.437C>T (SELE) MANE Select	NP_000441.2:p.Thr146Ile