Canonical Allele Identifier: CA3587536

Gene: PROP1

Linked Data

• dbSNP Id: rs121917840
• ExAC: 5:177420042 A / G
• gnomAD v2: 5-177420042-A-G
• gnomAD v4: 5-177993041-A-G
• MyVariant Identifiers: chr5:g.177420042A>G (hg19) ; chr5:g.177993041A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177993041A>G , CM000667.2:g.177993041A>G	GRCh38
NC_000005.9:g.177420042A>G , CM000667.1:g.177420042A>G	GRCh37
NC_000005.8:g.177352648A>G	NCBI36
NG_015889.1:g.8202T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.349T>C MANE Select	ENSP00000311290.2:p.Phe117Leu
NM_006261.4:c.349T>C	NP_006252.3:p.Phe117Leu
NM_006261.5:c.349T>C MANE Select	NP_006252.4:p.Phe117Leu