Canonical Allele Identifier: CA344337612

Gene: REN

Linked Data

• MyVariant Identifiers: chr1:g.204128538G>T (hg19) ; chr1:g.204159410G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204159410G>T , CM000663.2:g.204159410G>T	GRCh38
NC_000001.10:g.204128538G>T , CM000663.1:g.204128538G>T	GRCh37
NC_000001.9:g.202395161G>T	NCBI36
NG_012122.1:g.11928C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.678C>A MANE Select	ENSP00000272190.8:p.Phe226Leu
ENST00000638118.1:c.564C>A	ENSP00000490307.1:p.Phe188Leu
ENST00000272190.8:c.678C>A	ENSP00000272190.8:p.Phe226Leu
NM_000537.3:c.678C>A	NP_000528.1:p.Phe226Leu
NM_000537.4:c.678C>A MANE Select	NP_000528.1:p.Phe226Leu