Canonical Allele Identifier: CA214189

Gene: PROP1

Linked Data

• ClinVar Variation Id: 36699
• ClinVar RCV Id: RCV000030378 ; RCV000325507 ; RCV000712862
• dbSNP Id: rs2233784
• ExAC: 5:177421275 C / T
• gnomAD v2: 5-177421275-C-T
• gnomAD v3: 5-177994274-C-T
• gnomAD v4: 5-177994274-C-T
• MyVariant Identifiers: chr5:g.177421275C>T (hg19) ; chr5:g.177994274C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177994274C>T , CM000667.2:g.177994274C>T	GRCh38
NC_000005.9:g.177421275C>T , CM000667.1:g.177421275C>T	GRCh37
NC_000005.8:g.177353881C>T	NCBI36
NG_015889.1:g.6969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.174G>A MANE Select	ENSP00000311290.2:p.Pro58=
NM_006261.4:c.174G>A	NP_006252.3:p.Pro58=
NM_006261.5:c.174G>A MANE Select	NP_006252.4:p.Pro58=