Canonical Allele Identifier: CA421740862

Gene: SELE FIRRM

Linked Data

• MyVariant Identifiers: chr1:g.169701073G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731932G>C , CM000663.2:g.169731932G>C	GRCh38
NC_000001.10:g.169701073G>C , CM000663.1:g.169701073G>C	GRCh37
NC_000001.9:g.167967697G>C	NCBI36
NG_012124.1:g.7148C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333360.12:c.432C>G (SELE) MANE Select	ENSP00000331736.7:p.Thr144=
ENST00000333360.11:c.432C>G (SELE)	ENSP00000331736.7:p.Thr144=
ENST00000367774.1:c.432C>G (SELE)	ENSP00000356748.1:p.Thr144=
ENST00000367775.5:c.432C>G (SELE)	ENSP00000356749.1:p.Thr144=
ENST00000367776.5:c.432C>G (SELE)	ENSP00000356750.1:p.Thr144=
ENST00000367777.5:c.432C>G (SELE)	ENSP00000356751.1:p.Thr144=
ENST00000461085.1:n.115C>G (SELE)
ENST00000498289.5:n.851+48000G>C (FIRRM)
NM_000450.2:c.432C>G (SELE) MANE Select	NP_000441.2:p.Thr144=