Canonical Allele Identifier: CA3587508

Gene: PROP1

Linked Data

• ClinVar Variation Id: 732957
• ClinVar RCV Id: RCV000908167 ; RCV001158112
• dbSNP Id: rs73807328
• ExAC: 5:177419857 C / T
• gnomAD v2: 5-177419857-C-T
• gnomAD v3: 5-177992856-C-T
• gnomAD v4: 5-177992856-C-T
• MyVariant Identifiers: chr5:g.177419857C>T (hg19) ; chr5:g.177992856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177992856C>T , CM000667.2:g.177992856C>T	GRCh38
NC_000005.9:g.177419857C>T , CM000667.1:g.177419857C>T	GRCh37
NC_000005.8:g.177352463C>T	NCBI36
NG_015889.1:g.8387G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.534G>A MANE Select	ENSP00000311290.2:p.Gln178=
NM_006261.4:c.534G>A	NP_006252.3:p.Gln178=
NM_006261.5:c.534G>A MANE Select	NP_006252.4:p.Gln178=