Canonical Allele Identifier: CA252736
Gene: PRPF3 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'