Canonical Allele Identifier: CA252736

Gene: PRPF3

Linked Data

• ClinVar Variation Id: 3352
• ClinVar RCV Id: RCV000003516 ; RCV000726757 ; RCV001003129 ; RCV001074785
• dbSNP Id: rs121434241
• gnomAD v4: 1-150344216-C-T
• MyVariant Identifiers: chr1:g.150316692C>T (hg19) ; chr1:g.150344216C>T (hg38)
• PubMed: PMID:11773002 ; PMID:17932117 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150344216C>T , CM000663.2:g.150344216C>T	GRCh38
NC_000001.10:g.150316692C>T , CM000663.1:g.150316692C>T	GRCh37
NC_000001.9:g.148583316C>T	NCBI36
NG_008245.1:g.27765C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1481C>T MANE Select	ENSP00000315379.6:p.Thr494Met
ENST00000324862.6:c.1481C>T	ENSP00000315379.6:p.Thr494Met
ENST00000467329.5:n.1750C>T
ENST00000493553.1:n.357C>T
NM_004698.2:c.1481C>T	NP_004689.1:p.Thr494Met
XM_011510128.1:c.1481C>T	XP_011508430.1:p.Thr494Met
XM_011510129.1:c.1076C>T	XP_011508431.1:p.Thr359Met
XM_011510130.1:c.1049C>T	XP_011508432.1:p.Thr350Met
XR_241103.1:n.1583C>T
XR_241104.1:n.1583C>T
XR_921997.1:n.1583C>T
XR_921998.1:n.1578C>T
NM_001350529.1:c.1076C>T	NP_001337458.1:p.Thr359Met
NM_004698.3:c.1481C>T	NP_004689.1:p.Thr494Met
NR_146766.1:n.1654C>T
NR_146767.1:n.1750C>T
NR_146768.1:n.1654C>T
NR_146769.1:n.1649C>T
XM_011510130.3:c.1049C>T	XP_011508432.1:p.Thr350Met
XM_017002790.1:c.1049C>T	XP_016858279.1:p.Thr350Met
XR_001737536.2:n.1575C>T
XR_001737537.2:n.1570C>T
XR_001737540.2:n.2327C>T
XR_001737541.2:n.1408C>T
XR_002958009.1:n.2080C>T
XR_002958010.1:n.1575C>T
XR_002958012.1:n.1570C>T
XR_241103.3:n.1575C>T
XR_921997.3:n.1575C>T
XR_921998.3:n.1570C>T
NM_004698.4:c.1481C>T MANE Select	NP_004689.1:p.Thr494Met