Canonical Allele Identifier: CA3587660

Gene: PROP1

Linked Data

• ClinVar Variation Id: 353017
• ClinVar RCV Id: RCV000455148 ; RCV000605003 ; RCV001515630
• dbSNP Id: rs1135320
• ExAC: 5:177422908 A / G
• gnomAD v2: 5-177422908-A-G
• gnomAD v3: 5-177995907-A-G
• gnomAD v4: 5-177995907-A-G
• MyVariant Identifiers: chr5:g.177422908A>G (hg19) ; chr5:g.177995907A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177995907A>G , CM000667.2:g.177995907A>G	GRCh38
NC_000005.9:g.177422908A>G , CM000667.1:g.177422908A>G	GRCh37
NC_000005.8:g.177355514A>G	NCBI36
NG_015889.1:g.5336T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.27T>C MANE Select	ENSP00000311290.2:p.Ala9=
NM_006261.4:c.27T>C	NP_006252.3:p.Ala9=
NM_006261.5:c.27T>C MANE Select	NP_006252.4:p.Ala9=