Canonical Allele Identifier: CA5195061

Gene: PRPF4

Linked Data

• ClinVar Variation Id: 2896358
• ClinVar RCV Id: RCV003730894
• dbSNP Id: rs750966121
• ExAC: 9:116050502 G / A
• gnomAD v2: 9-116050502-G-A
• gnomAD v4: 9-113288222-G-A
• MyVariant Identifiers: chr9:g.116050502G>A (hg19) ; chr9:g.113288222G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113288222G>A , CM000671.2:g.113288222G>A	GRCh38
NC_000009.11:g.116050502G>A , CM000671.1:g.116050502G>A	GRCh37
NC_000009.10:g.115090323G>A	NCBI36
NG_034225.1:g.17589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.980G>A MANE Select	ENSP00000363313.4:p.Arg327Gln
ENST00000374199.9:c.983G>A	ENSP00000363315.4:p.Arg328Gln
ENST00000374198.4:c.983G>A	ENSP00000363313.3:p.Arg328Gln
ENST00000374199.8:c.980G>A	ENSP00000363315.3:p.Arg327Gln
NM_001244926.1:c.980G>A	NP_001231855.1:p.Arg327Gln
NM_004697.4:c.983G>A	NP_004688.2:p.Arg328Gln
XM_005252300.2:c.254G>A	XP_005252357.1:p.Arg85Gln
XM_011519181.1:c.983G>A	XP_011517483.1:p.Arg328Gln
NM_001322266.1:c.254G>A	NP_001309195.1:p.Arg85Gln
NM_001322267.1:c.254G>A	NP_001309196.1:p.Arg85Gln
NR_136265.1:n.1093G>A
NR_136266.1:n.1090G>A
NM_001244926.2:c.980G>A MANE Select	NP_001231855.1:p.Arg327Gln
NM_001322266.2:c.254G>A	NP_001309195.1:p.Arg85Gln
NM_001322267.2:c.254G>A	NP_001309196.1:p.Arg85Gln
NM_004697.5:c.983G>A	NP_004688.2:p.Arg328Gln
NR_136265.2:n.1069G>A
NR_136266.2:n.1066G>A