Canonical Allele Identifier: CA448355366
Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1153695
ClinVar RCV Id: RCV001495465
dbSNP Id: rs1772693340
gnomAD v4: 5-177992997-C-T
MyVariant Identifiers: chr5:g.177419998C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177992997C>T , CM000667.2:g.177992997C>T GRCh38
NC_000005.9:g.177419998C>T , CM000667.1:g.177419998C>T GRCh37
NC_000005.8:g.177352604C>T NCBI36
NG_015889.1:g.8246G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.393G>A MANE Select ENSP00000311290.2:p.Leu131=
NM_006261.4:c.393G>A NP_006252.3:p.Leu131=
NM_006261.5:c.393G>A MANE Select NP_006252.4:p.Leu131=
Search 100 bp 5'
Search 100 bp 3'