Canonical Allele Identifier: CA3587530

Gene: PROP1

Linked Data

• ClinVar Variation Id: 764481
• ClinVar RCV Id: RCV000942829 ; RCV001827005 ; RCV003413743
• dbSNP Id: rs140207251
• ExAC: 5:177420006 G / A
• gnomAD v2: 5-177420006-G-A
• gnomAD v3: 5-177993005-G-A
• gnomAD v4: 5-177993005-G-A
• MyVariant Identifiers: chr5:g.177420006G>A (hg19) ; chr5:g.177993005G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177993005G>A , CM000667.2:g.177993005G>A	GRCh38
NC_000005.9:g.177420006G>A , CM000667.1:g.177420006G>A	GRCh37
NC_000005.8:g.177352612G>A	NCBI36
NG_015889.1:g.8238C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000308304.2:c.385C>T MANE Select	ENSP00000311290.2:p.Arg129Cys
NM_006261.4:c.385C>T	NP_006252.3:p.Arg129Cys
NM_006261.5:c.385C>T MANE Select	NP_006252.4:p.Arg129Cys