Canonical Allele Identifier: CA344338520

Gene: REN

Linked Data

• MyVariant Identifiers: chr1:g.204128674G>A (hg19) ; chr1:g.204159546G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204159546G>A , CM000663.2:g.204159546G>A	GRCh38
NC_000001.10:g.204128674G>A , CM000663.1:g.204128674G>A	GRCh37
NC_000001.9:g.202395297G>A	NCBI36
NG_012122.1:g.11792C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.542C>T MANE Select	ENSP00000272190.8:p.Pro181Leu
ENST00000638118.1:c.428C>T	ENSP00000490307.1:p.Pro143Leu
ENST00000272190.8:c.542C>T	ENSP00000272190.8:p.Pro181Leu
NM_000537.3:c.542C>T	NP_000528.1:p.Pro181Leu
NM_000537.4:c.542C>T MANE Select	NP_000528.1:p.Pro181Leu