Canonical Allele Identifier: CA3587652

Gene: PROP1

Linked Data

• ClinVar Variation Id: 288237
• ClinVar RCV Id: RCV000344060 ; RCV000764595
• dbSNP Id: rs775353413
• ExAC: 5:177422883 C / T
• gnomAD v2: 5-177422883-C-T
• gnomAD v3: 5-177995882-C-T
• gnomAD v4: 5-177995882-C-T
• COSMIC: COSM4717947
• MyVariant Identifiers: chr5:g.177422883C>T (hg19) ; chr5:g.177995882C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177995882C>T , CM000667.2:g.177995882C>T	GRCh38
NC_000005.9:g.177422883C>T , CM000667.1:g.177422883C>T	GRCh37
NC_000005.8:g.177355489C>T	NCBI36
NG_015889.1:g.5361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.52G>A MANE Select	ENSP00000311290.2:p.Gly18Ser
NM_006261.4:c.52G>A	NP_006252.3:p.Gly18Ser
NM_006261.5:c.52G>A MANE Select	NP_006252.4:p.Gly18Ser