Canonical Allele Identifier: CA414711842

Gene: HPRT1

Linked Data

• COSMIC: COSM1636388
• MyVariant Identifiers: chrX:g.133609213C>T (hg19) ; chrX:g.134475183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134475183C>T , CM000685.2:g.134475183C>T	GRCh38
NC_000023.10:g.133609213C>T , CM000685.1:g.133609213C>T	GRCh37
NC_000023.9:g.133436879C>T	NCBI36
NG_012329.1:g.20039C>T
NG_012329.2:g.20039C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298556.8:c.137C>T MANE Select	ENSP00000298556.7:p.Thr46Ile
ENST00000298556.7:c.137C>T	ENSP00000298556.7:p.Thr46Ile
ENST00000462974.5:n.295C>T
ENST00000475720.1:n.95C>T
NM_000194.2:c.137C>T	NP_000185.1:p.Thr46Ile
XM_011531328.1:c.155C>T	XP_011529630.1:p.Thr52Ile
NM_000194.3:c.137C>T MANE Select	NP_000185.1:p.Thr46Ile