Canonical Allele Identifier: CA344338783

Gene: REN

Linked Data

• MyVariant Identifiers: chr1:g.204128714T>C (hg19) ; chr1:g.204159586T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204159586T>C , CM000663.2:g.204159586T>C	GRCh38
NC_000001.10:g.204128714T>C , CM000663.1:g.204128714T>C	GRCh37
NC_000001.9:g.202395337T>C	NCBI36
NG_012122.1:g.11752A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.502A>G MANE Select	ENSP00000272190.8:p.Ile168Val
ENST00000638118.1:c.388A>G	ENSP00000490307.1:p.Ile130Val
ENST00000272190.8:c.502A>G	ENSP00000272190.8:p.Ile168Val
NM_000537.3:c.502A>G	NP_000528.1:p.Ile168Val
NM_000537.4:c.502A>G MANE Select	NP_000528.1:p.Ile168Val