Canonical Allele Identifier: CA3587532

Gene: PROP1

Linked Data

• dbSNP Id: rs778000934
• ExAC: 5:177420007 C / G
• gnomAD v2: 5-177420007-C-G
• gnomAD v3: 5-177993006-C-G
• gnomAD v4: 5-177993006-C-G
• MyVariant Identifiers: chr5:g.177420007C>G (hg19) ; chr5:g.177993006C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177993006C>G , CM000667.2:g.177993006C>G	GRCh38
NC_000005.9:g.177420007C>G , CM000667.1:g.177420007C>G	GRCh37
NC_000005.8:g.177352613C>G	NCBI36
NG_015889.1:g.8237G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000308304.2:c.384G>C MANE Select	ENSP00000311290.2:p.Glu128Asp
NM_006261.4:c.384G>C	NP_006252.3:p.Glu128Asp
NM_006261.5:c.384G>C MANE Select	NP_006252.4:p.Glu128Asp