Canonical Allele Identifier: CA346831

Gene: PROP1

Linked Data

• ClinVar Variation Id: 188820
• ClinVar RCV Id: RCV000169158 ; RCV000327755 ; RCV000417659
• dbSNP Id: rs2233783
• ExAC: 5:177421297 C / G
• gnomAD v2: 5-177421297-C-G
• gnomAD v3: 5-177994296-C-G
• gnomAD v4: 5-177994296-C-G
• MyVariant Identifiers: chr5:g.177421297C>G (hg19) ; chr5:g.177994296C>G (hg38)
• PubMed: PMID:15670191 ; PMID:16544023 ; PMID:20981092

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177994296C>G , CM000667.2:g.177994296C>G	GRCh38
NC_000005.9:g.177421297C>G , CM000667.1:g.177421297C>G	GRCh37
NC_000005.8:g.177353903C>G	NCBI36
NG_015889.1:g.6947G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.152G>C MANE Select	ENSP00000311290.2:p.Gly51Ala
NM_006261.4:c.152G>C	NP_006252.3:p.Gly51Ala
NM_006261.5:c.152G>C MANE Select	NP_006252.4:p.Gly51Ala