Canonical Allele Identifier: CA1075498

Gene: PRPF3

Linked Data

• ClinVar Variation Id: 292498
• ClinVar RCV Id: RCV000280976 ; RCV000909237 ; RCV003920179
• dbSNP Id: rs80201355
• ExAC: 1:150307457 G / A
• gnomAD v2: 1-150307457-G-A
• gnomAD v3: 1-150334986-G-A
• gnomAD v4: 1-150334986-G-A
• MyVariant Identifiers: chr1:g.150307457G>A (hg19) ; chr1:g.150334986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150334986G>A , CM000663.2:g.150334986G>A	GRCh38
NC_000001.10:g.150307457G>A , CM000663.1:g.150307457G>A	GRCh37
NC_000001.9:g.148574081G>A	NCBI36
NG_008245.1:g.18530G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.780G>A MANE Select	ENSP00000315379.6:p.Glu260=
ENST00000324862.6:c.780G>A	ENSP00000315379.6:p.Glu260=
ENST00000467329.5:n.1049G>A
ENST00000496202.5:n.1038G>A
NM_004698.2:c.780G>A	NP_004689.1:p.Glu260=
XM_011510128.1:c.780G>A	XP_011508430.1:p.Glu260=
XM_011510129.1:c.375G>A	XP_011508431.1:p.Glu125=
XM_011510130.1:c.348G>A	XP_011508432.1:p.Glu116=
XM_011510131.1:c.780G>A	XP_011508433.1:p.Glu260=
XM_011510132.1:c.780G>A	XP_011508434.1:p.Glu260=
XR_241103.1:n.882G>A
XR_241104.1:n.882G>A
XR_921997.1:n.882G>A
XR_921998.1:n.882G>A
NM_001350529.1:c.375G>A	NP_001337458.1:p.Glu125=
NM_004698.3:c.780G>A	NP_004689.1:p.Glu260=
NR_146766.1:n.953G>A
NR_146767.1:n.1049G>A
NR_146768.1:n.953G>A
NR_146769.1:n.953G>A
XM_011510130.3:c.348G>A	XP_011508432.1:p.Glu116=
XM_011510131.3:c.780G>A	XP_011508433.1:p.Glu260=
XM_011510132.3:c.780G>A	XP_011508434.1:p.Glu260=
XM_017002790.1:c.348G>A	XP_016858279.1:p.Glu116=
XM_017002791.2:c.780G>A	XP_016858280.1:p.Glu260=
XR_001737536.2:n.874G>A
XR_001737537.2:n.874G>A
XR_001737540.2:n.1626G>A
XR_001737541.2:n.874G>A
XR_002958009.1:n.1379G>A
XR_002958010.1:n.874G>A
XR_002958012.1:n.874G>A
XR_241103.3:n.874G>A
XR_921997.3:n.874G>A
XR_921998.3:n.874G>A
NM_004698.4:c.780G>A MANE Select	NP_004689.1:p.Glu260=