Canonical Allele Identifier: CA340737

Gene: PROP1

Linked Data

• ClinVar Variation Id: 8106
• ClinVar RCV Id: RCV000008574 ; RCV000623197 ; RCV001851742 ; RCV003317030
• dbSNP Id: rs137853100
• ExAC: 5:177421153 C / T
• gnomAD v2: 5-177421153-C-T
• gnomAD v3: 5-177994152-C-T
• gnomAD v4: 5-177994152-C-T
• MyVariant Identifiers: chr5:g.177421153C>T (hg19) ; chr5:g.177994152C>T (hg38)
• PubMed: PMID:9462743 ; PMID:12153609 ; PMID:12519826 ; PMID:15963055 ; PMID:16735499 ; PMID:18157385 ; PMID:26147833

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177994152C>T , CM000667.2:g.177994152C>T	GRCh38
NC_000005.9:g.177421153C>T , CM000667.1:g.177421153C>T	GRCh37
NC_000005.8:g.177353759C>T	NCBI36
NG_015889.1:g.7091G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.296G>A MANE Select	ENSP00000311290.2:p.Arg99Gln
NM_006261.4:c.296G>A	NP_006252.3:p.Arg99Gln
NM_006261.5:c.296G>A MANE Select	NP_006252.4:p.Arg99Gln