Canonical Allele Identifier: CA3587511

Gene: PROP1

Linked Data

• ClinVar Variation Id: 1088810
• ClinVar RCV Id: RCV001407439 ; RCV003946070
• dbSNP Id: rs773082009
• ExAC: 5:177419878 G / A
• gnomAD v2: 5-177419878-G-A
• gnomAD v3: 5-177992877-G-A
• gnomAD v4: 5-177992877-G-A
• MyVariant Identifiers: chr5:g.177419878G>A (hg19) ; chr5:g.177992877G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177992877G>A , CM000667.2:g.177992877G>A	GRCh38
NC_000005.9:g.177419878G>A , CM000667.1:g.177419878G>A	GRCh37
NC_000005.8:g.177352484G>A	NCBI36
NG_015889.1:g.8366C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.513C>T MANE Select	ENSP00000311290.2:p.Tyr171=
NM_006261.4:c.513C>T	NP_006252.3:p.Tyr171=
NM_006261.5:c.513C>T MANE Select	NP_006252.4:p.Tyr171=