Canonical Allele Identifier: CA252737

Gene: PRPF3

Linked Data

• ClinVar Variation Id: 3353
• ClinVar RCV Id: RCV000003517 ; RCV001565464
• dbSNP Id: rs121434242
• MyVariant Identifiers: chr1:g.150316688C>T (hg19) ; chr1:g.150344212C>T (hg38)
• PubMed: PMID:11773002

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150344212C>T , CM000663.2:g.150344212C>T	GRCh38
NC_000001.10:g.150316688C>T , CM000663.1:g.150316688C>T	GRCh37
NC_000001.9:g.148583312C>T	NCBI36
NG_008245.1:g.27761C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1477C>T MANE Select	ENSP00000315379.6:p.Pro493Ser
ENST00000324862.6:c.1477C>T	ENSP00000315379.6:p.Pro493Ser
ENST00000467329.5:n.1746C>T
ENST00000493553.1:n.353C>T
NM_004698.2:c.1477C>T	NP_004689.1:p.Pro493Ser
XM_011510128.1:c.1477C>T	XP_011508430.1:p.Pro493Ser
XM_011510129.1:c.1072C>T	XP_011508431.1:p.Pro358Ser
XM_011510130.1:c.1045C>T	XP_011508432.1:p.Pro349Ser
XR_241103.1:n.1579C>T
XR_241104.1:n.1579C>T
XR_921997.1:n.1579C>T
XR_921998.1:n.1574C>T
NM_001350529.1:c.1072C>T	NP_001337458.1:p.Pro358Ser
NM_004698.3:c.1477C>T	NP_004689.1:p.Pro493Ser
NR_146766.1:n.1650C>T
NR_146767.1:n.1746C>T
NR_146768.1:n.1650C>T
NR_146769.1:n.1645C>T
XM_011510130.3:c.1045C>T	XP_011508432.1:p.Pro349Ser
XM_017002790.1:c.1045C>T	XP_016858279.1:p.Pro349Ser
XR_001737536.2:n.1571C>T
XR_001737537.2:n.1566C>T
XR_001737540.2:n.2323C>T
XR_001737541.2:n.1404C>T
XR_002958009.1:n.2076C>T
XR_002958010.1:n.1571C>T
XR_002958012.1:n.1566C>T
XR_241103.3:n.1571C>T
XR_921997.3:n.1571C>T
XR_921998.3:n.1566C>T
NM_004698.4:c.1477C>T MANE Select	NP_004689.1:p.Pro493Ser