Canonical Allele Identifier: CA10603704
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280785
ClinVar RCV Id: RCV000330466
dbSNP Id: rs886041930
MyVariant Identifiers: chrX:g.133609278C>T (hg19) chrX:g.134475248C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475248C>T , CM000685.2:g.134475248C>T GRCh38
NC_000023.10:g.133609278C>T , CM000685.1:g.133609278C>T GRCh37
NC_000023.9:g.133436944C>T NCBI36
NG_012329.1:g.20104C>T
NG_012329.2:g.20104C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.202C>T MANE Select ENSP00000298556.7:p.Leu68Phe
ENST00000298556.7:c.202C>T ENSP00000298556.7:p.Leu68Phe
ENST00000462974.5:n.360C>T
ENST00000475720.1:n.160C>T
NM_000194.2:c.202C>T NP_000185.1:p.Leu68Phe
XM_011531328.1:c.220C>T XP_011529630.1:p.Leu74Phe
NM_000194.3:c.202C>T MANE Select NP_000185.1:p.Leu68Phe
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