Canonical Allele Identifier: CA252738

Gene: PRPF3

Linked Data

• ClinVar Variation Id: 3354
• ClinVar RCV Id: RCV000003518
• dbSNP Id: rs121434243
• MyVariant Identifiers: chr1:g.150316677C>A (hg19) ; chr1:g.150344201C>A (hg38)
• PubMed: PMID:18412284

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150344201C>A , CM000663.2:g.150344201C>A	GRCh38
NC_000001.10:g.150316677C>A , CM000663.1:g.150316677C>A	GRCh37
NC_000001.9:g.148583301C>A	NCBI36
NG_008245.1:g.27750C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1466C>A MANE Select	ENSP00000315379.6:p.Ala489Asp
ENST00000324862.6:c.1466C>A	ENSP00000315379.6:p.Ala489Asp
ENST00000467329.5:n.1735C>A
ENST00000493553.1:n.342C>A
NM_004698.2:c.1466C>A	NP_004689.1:p.Ala489Asp
XM_011510128.1:c.1466C>A	XP_011508430.1:p.Ala489Asp
XM_011510129.1:c.1061C>A	XP_011508431.1:p.Ala354Asp
XM_011510130.1:c.1034C>A	XP_011508432.1:p.Ala345Asp
XR_241103.1:n.1568C>A
XR_241104.1:n.1568C>A
XR_921997.1:n.1568C>A
XR_921998.1:n.1563C>A
NM_001350529.1:c.1061C>A	NP_001337458.1:p.Ala354Asp
NM_004698.3:c.1466C>A	NP_004689.1:p.Ala489Asp
NR_146766.1:n.1639C>A
NR_146767.1:n.1735C>A
NR_146768.1:n.1639C>A
NR_146769.1:n.1634C>A
XM_011510130.3:c.1034C>A	XP_011508432.1:p.Ala345Asp
XM_017002790.1:c.1034C>A	XP_016858279.1:p.Ala345Asp
XR_001737536.2:n.1560C>A
XR_001737537.2:n.1555C>A
XR_001737540.2:n.2312C>A
XR_001737541.2:n.1393C>A
XR_002958009.1:n.2065C>A
XR_002958010.1:n.1560C>A
XR_002958012.1:n.1555C>A
XR_241103.3:n.1560C>A
XR_921997.3:n.1560C>A
XR_921998.3:n.1555C>A
NM_004698.4:c.1466C>A MANE Select	NP_004689.1:p.Ala489Asp