Canonical Allele Identifier: CA344337790

Gene: REN

Linked Data

• MyVariant Identifiers: chr1:g.204128560A>T (hg19) ; chr1:g.204159432A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204159432A>T , CM000663.2:g.204159432A>T	GRCh38
NC_000001.10:g.204128560A>T , CM000663.1:g.204128560A>T	GRCh37
NC_000001.9:g.202395183A>T	NCBI36
NG_012122.1:g.11906T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.656T>A MANE Select	ENSP00000272190.8:p.Leu219Gln
ENST00000638118.1:c.542T>A	ENSP00000490307.1:p.Leu181Gln
ENST00000272190.8:c.656T>A	ENSP00000272190.8:p.Leu219Gln
NM_000537.3:c.656T>A	NP_000528.1:p.Leu219Gln
NM_000537.4:c.656T>A MANE Select	NP_000528.1:p.Leu219Gln