Canonical Allele Identifier: CA421740768

Gene: SELE FIRRM

Linked Data

• MyVariant Identifiers: chr1:g.169700989G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731848G>C , CM000663.2:g.169731848G>C	GRCh38
NC_000001.10:g.169700989G>C , CM000663.1:g.169700989G>C	GRCh37
NC_000001.9:g.167967613G>C	NCBI36
NG_012124.1:g.7232C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333360.12:c.516C>G (SELE) MANE Select	ENSP00000331736.7:p.Leu172=
ENST00000333360.11:c.516C>G (SELE)	ENSP00000331736.7:p.Leu172=
ENST00000367774.1:c.516C>G (SELE)	ENSP00000356748.1:p.Leu172=
ENST00000367775.5:c.516C>G (SELE)	ENSP00000356749.1:p.Leu172=
ENST00000367776.5:c.516C>G (SELE)	ENSP00000356750.1:p.Leu172=
ENST00000367777.5:c.516C>G (SELE)	ENSP00000356751.1:p.Leu172=
ENST00000461085.1:n.199C>G (SELE)
ENST00000498289.5:n.851+47916G>C (FIRRM)
NM_000450.2:c.516C>G (SELE) MANE Select	NP_000441.2:p.Leu172=