Canonical Allele Identifier: CA340724

Gene: PROP1

Linked Data

• ClinVar Variation Id: 8096
• ClinVar RCV Id: RCV000008564 ; RCV001053358
• dbSNP Id: rs121917840
• ExAC: 5:177420042 A / T
• gnomAD v2: 5-177420042-A-T
• gnomAD v3: 5-177993041-A-T
• gnomAD v4: 5-177993041-A-T
• MyVariant Identifiers: chr5:g.177420042A>T (hg19) ; chr5:g.177993041A>T (hg38)
• PubMed: PMID:9462743 ; PMID:10323394 ; PMID:16131601 ; PMID:17526936 ; PMID:21132537 ; PMID:22024773

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177993041A>T , CM000667.2:g.177993041A>T	GRCh38
NC_000005.9:g.177420042A>T , CM000667.1:g.177420042A>T	GRCh37
NC_000005.8:g.177352648A>T	NCBI36
NG_015889.1:g.8202T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.349T>A MANE Select	ENSP00000311290.2:p.Phe117Ile
NM_006261.4:c.349T>A	NP_006252.3:p.Phe117Ile
NM_006261.5:c.349T>A MANE Select	NP_006252.4:p.Phe117Ile