Canonical Allele Identifier: CA214192

Gene: PROP1

Linked Data

• ClinVar Variation Id: 36702
• ClinVar RCV Id: RCV000030381 ; RCV001852600 ; RCV002283446 ; RCV003415746
• dbSNP Id: rs140016178
• ExAC: 5:177422889 G / A
• gnomAD v2: 5-177422889-G-A
• gnomAD v3: 5-177995888-G-A
• gnomAD v4: 5-177995888-G-A
• COSMIC: COSM4717948
• MyVariant Identifiers: chr5:g.177422889G>A (hg19) ; chr5:g.177995888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177995888G>A , CM000667.2:g.177995888G>A	GRCh38
NC_000005.9:g.177422889G>A , CM000667.1:g.177422889G>A	GRCh37
NC_000005.8:g.177355495G>A	NCBI36
NG_015889.1:g.5355C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.46C>T MANE Select	ENSP00000311290.2:p.Arg16Ter
NM_006261.4:c.46C>T	NP_006252.3:p.Arg16Ter
NM_006261.5:c.46C>T MANE Select	NP_006252.4:p.Arg16Ter