Canonical Allele Identifier: CA10621442

Gene: PROP1

Linked Data

• ClinVar Variation Id: 353010
• ClinVar RCV Id: RCV000299344 ; RCV001613170
• dbSNP Id: rs2233788
• gnomAD v2: 5-177419587-A-G
• gnomAD v3: 5-177992586-A-G
• gnomAD v4: 5-177992586-A-G
• MyVariant Identifiers: chr5:g.177419587A>G (hg19) ; chr5:g.177992586A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177992586A>G , CM000667.2:g.177992586A>G	GRCh38
NC_000005.9:g.177419587A>G , CM000667.1:g.177419587A>G	GRCh37
NC_000005.8:g.177352193A>G	NCBI36
NG_015889.1:g.8657T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.*123T>C MANE Select	ENSP00000311290.2:n.*123T>C
NM_006261.4:c.*123T>C	NP_006252.3:n.*123T>C
NM_006261.5:c.*123T>C MANE Select	NP_006252.4:n.*123T>C