Canonical Allele Identifier: CA362378929
Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1705572
ClinVar RCV Id: RCV002283886

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177993048C>T , CM000667.2:g.177993048C>T GRCh38
NC_000005.9:g.177420049C>T , CM000667.1:g.177420049C>T GRCh37
NC_000005.8:g.177352655C>T NCBI36
NG_015889.1:g.8195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.343-1G>A MANE Select ENSP00000311290.2:n.343-1G>A
NM_006261.4:c.343-1G>A NP_006252.3:n.343-1G>A
NM_006261.5:c.343-1G>A MANE Select NP_006252.4:n.343-1G>A