Canonical Allele Identifier: CA1075725

Gene: PRPF3

Linked Data

• ClinVar Variation Id: 292504
• ClinVar RCV Id: RCV000292447 ; RCV001438853
• dbSNP Id: rs782390597
• ExAC: 1:150321640 G / A
• gnomAD v2: 1-150321640-G-A
• gnomAD v3: 1-150349164-G-A
• gnomAD v4: 1-150349164-G-A
• MyVariant Identifiers: chr1:g.150321640G>A (hg19) ; chr1:g.150349164G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150349164G>A , CM000663.2:g.150349164G>A	GRCh38
NC_000001.10:g.150321640G>A , CM000663.1:g.150321640G>A	GRCh37
NC_000001.9:g.148588264G>A	NCBI36
NG_008245.1:g.32713G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1851G>A MANE Select	ENSP00000315379.6:p.Glu617=
ENST00000324862.6:c.1851G>A	ENSP00000315379.6:p.Glu617=
ENST00000467329.5:n.2178G>A
ENST00000470824.1:n.481G>A
ENST00000476970.1:n.960G>A
NM_004698.2:c.1851G>A	NP_004689.1:p.Glu617=
XM_011510128.1:c.*4G>A	XP_011508430.1:n.*4G>A
XM_011510129.1:c.1446G>A	XP_011508431.1:p.Glu482=
XM_011510130.1:c.1419G>A	XP_011508432.1:p.Glu473=
XR_241103.1:n.1834G>A
XR_921997.1:n.1844G>A
XR_921998.1:n.1948G>A
NM_001350529.1:c.1446G>A	NP_001337458.1:p.Glu482=
NM_004698.3:c.1851G>A	NP_004689.1:p.Glu617=
NR_146766.1:n.2082G>A
NR_146767.1:n.2178G>A
NR_146768.1:n.2034G>A
NR_146769.1:n.2087G>A
XM_011510130.3:c.1419G>A	XP_011508432.1:p.Glu473=
XM_017002790.1:c.1419G>A	XP_016858279.1:p.Glu473=
XR_001737536.2:n.1884G>A
XR_001737537.2:n.1998G>A
XR_001737540.2:n.2755G>A
XR_001737541.2:n.1778G>A
XR_002958009.1:n.2508G>A
XR_002958010.1:n.3754G>A
XR_002958012.1:n.1950G>A
XR_241103.3:n.1826G>A
XR_921997.3:n.1836G>A
XR_921998.3:n.1940G>A
NM_004698.4:c.1851G>A MANE Select	NP_004689.1:p.Glu617=