Canonical Allele Identifier: CA340737
Gene: PROP1 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'