Canonical Allele Identifier: CA342281727

Gene: PRPF3

Linked Data

• ClinVar Variation Id: 848318
• ClinVar RCV Id: RCV001052049
• dbSNP Id: rs1658057278
• MyVariant Identifiers: chr1:g.150316636A>C (hg19) ; chr1:g.150344160A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150344160A>C , CM000663.2:g.150344160A>C	GRCh38
NC_000001.10:g.150316636A>C , CM000663.1:g.150316636A>C	GRCh37
NC_000001.9:g.148583260A>C	NCBI36
NG_008245.1:g.27709A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324862.7:c.1427-2A>C MANE Select	ENSP00000315379.6:n.1427-2A>C
ENST00000324862.6:c.1427-2A>C	ENSP00000315379.6:n.1427-2A>C
ENST00000467329.5:n.1696-2A>C
ENST00000493553.1:n.303-2A>C
NM_004698.2:c.1427-2A>C	NP_004689.1:n.1427-2A>C
XM_011510128.1:c.1427-2A>C	XP_011508430.1:n.1427-2A>C
XM_011510129.1:c.1022-2A>C	XP_011508431.1:n.1022-2A>C
XM_011510130.1:c.995-2A>C	XP_011508432.1:n.995-2A>C
XR_241103.1:n.1529-2A>C
XR_241104.1:n.1529-2A>C
XR_921997.1:n.1529-2A>C
XR_921998.1:n.1524-2A>C
NM_001350529.1:c.1022-2A>C	NP_001337458.1:n.1022-2A>C
NM_004698.3:c.1427-2A>C	NP_004689.1:n.1427-2A>C
NR_146766.1:n.1600-2A>C
NR_146767.1:n.1696-2A>C
NR_146768.1:n.1600-2A>C
NR_146769.1:n.1595-2A>C
XM_011510130.3:c.995-2A>C	XP_011508432.1:n.995-2A>C
XM_017002790.1:c.995-2A>C	XP_016858279.1:n.995-2A>C
XR_001737536.2:n.1521-2A>C
XR_001737537.2:n.1516-2A>C
XR_001737540.2:n.2273-2A>C
XR_001737541.2:n.1354-2A>C
XR_002958009.1:n.2026-2A>C
XR_002958010.1:n.1521-2A>C
XR_002958012.1:n.1516-2A>C
XR_241103.3:n.1521-2A>C
XR_921997.3:n.1521-2A>C
XR_921998.3:n.1516-2A>C
NM_004698.4:c.1427-2A>C MANE Select	NP_004689.1:n.1427-2A>C