Canonical Allele Identifier: CA3587485

Gene: PROP1

Linked Data

• ClinVar Variation Id: 287515
• ClinVar RCV Id: RCV000288943 ; RCV001156454
• dbSNP Id: rs535993919
• ExAC: 5:177419761 T / G
• gnomAD v2: 5-177419761-T-G
• gnomAD v3: 5-177992760-T-G
• gnomAD v4: 5-177992760-T-G
• MyVariant Identifiers: chr5:g.177419761T>G (hg19) ; chr5:g.177419761_177419762delinsGG (hg19) ; chr5:g.177992760T>G (hg38) ; chr5:g.177992760_177992761delinsGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177992760T>G , CM000667.2:g.177992760T>G	GRCh38
NC_000005.9:g.177419761T>G , CM000667.1:g.177419761T>G	GRCh37
NC_000005.8:g.177352367T>G	NCBI36
NG_015889.1:g.8483A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.630A>C MANE Select	ENSP00000311290.2:p.Pro210=
NM_006261.4:c.630A>C	NP_006252.3:p.Pro210=
NM_006261.5:c.630A>C MANE Select	NP_006252.4:p.Pro210=