Canonical Allele Identifier: CA340722
Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8095
dbSNP Id: rs121917839

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177993032G>A , CM000667.2:g.177993032G>A GRCh38
NC_000005.9:g.177420033G>A , CM000667.1:g.177420033G>A GRCh37
NC_000005.8:g.177352639G>A NCBI36
NG_015889.1:g.8211C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.358C>T MANE Select ENSP00000311290.2:p.Arg120Cys
NM_006261.4:c.358C>T NP_006252.3:p.Arg120Cys
NM_006261.5:c.358C>T MANE Select NP_006252.4:p.Arg120Cys