Canonical Allele Identifier: CA344338544

Gene: REN

Linked Data

• MyVariant Identifiers: chr1:g.204128678T>A (hg19) ; chr1:g.204159550T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204159550T>A , CM000663.2:g.204159550T>A	GRCh38
NC_000001.10:g.204128678T>A , CM000663.1:g.204128678T>A	GRCh37
NC_000001.9:g.202395301T>A	NCBI36
NG_012122.1:g.11788A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.538A>T MANE Select	ENSP00000272190.8:p.Met180Leu
ENST00000638118.1:c.424A>T	ENSP00000490307.1:p.Met142Leu
ENST00000272190.8:c.538A>T	ENSP00000272190.8:p.Met180Leu
NM_000537.3:c.538A>T	NP_000528.1:p.Met180Leu
NM_000537.4:c.538A>T MANE Select	NP_000528.1:p.Met180Leu