Canonical Allele Identifier: CA342501675
Gene: KPRP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152760413T>G , CM000663.2:g.152760413T>G GRCh38
NC_000001.10:g.152732889T>G , CM000663.1:g.152732889T>G GRCh37
NC_000001.9:g.150999513T>G NCBI36
NG_051190.1:g.7384T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000606109.2:c.825T>G MANE Select ENSP00000475216.1:p.Phe275Leu
ENST00000606109.1:c.825T>G ENSP00000475216.1:p.Phe275Leu
NM_001025231.1:c.825T>G NP_001020402.1:p.Phe275Leu
XM_011509571.1:c.825T>G XP_011507873.1:p.Phe275Leu
NM_001025231.2:c.825T>G NP_001020402.1:p.Phe275Leu
NM_001025231.3:c.825T>G MANE Select NP_001020402.1:p.Phe275Leu