Canonical Allele Identifier: CA344337779

Gene: REN

Linked Data

• MyVariant Identifiers: chr1:g.204128558T>G (hg19) ; chr1:g.204159430T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204159430T>G , CM000663.2:g.204159430T>G	GRCh38
NC_000001.10:g.204128558T>G , CM000663.1:g.204128558T>G	GRCh37
NC_000001.9:g.202395181T>G	NCBI36
NG_012122.1:g.11908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.658A>C MANE Select	ENSP00000272190.8:p.Lys220Gln
ENST00000638118.1:c.544A>C	ENSP00000490307.1:p.Lys182Gln
ENST00000272190.8:c.658A>C	ENSP00000272190.8:p.Lys220Gln
NM_000537.3:c.658A>C	NP_000528.1:p.Lys220Gln
NM_000537.4:c.658A>C MANE Select	NP_000528.1:p.Lys220Gln