Canonical Allele Identifier: CA340722

Gene: PROP1

Linked Data

• ClinVar Variation Id: 8095
• ClinVar RCV Id: RCV000008563 ; RCV001389806
• dbSNP Id: rs121917839
• ExAC: 5:177420033 G / A
• gnomAD v2: 5-177420033-G-A
• gnomAD v3: 5-177993032-G-A
• gnomAD v4: 5-177993032-G-A
• COSMIC: COSM1222141
• MyVariant Identifiers: chr5:g.177420033G>A (hg19) ; chr5:g.177993032G>A (hg38)
• PubMed: PMID:9462743 ; PMID:9768691 ; PMID:10323394 ; PMID:12153609 ; PMID:14614227 ; PMID:16984240 ; PMID:17526949

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