Canonical Allele Identifier: CA5195057

Gene: PRPF4

Linked Data

• dbSNP Id: rs764441780
• ExAC: 9:116050487 C / A
• gnomAD v2: 9-116050487-C-A
• gnomAD v4: 9-113288207-C-A
• MyVariant Identifiers: chr9:g.116050487C>A (hg19) ; chr9:g.113288207C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113288207C>A , CM000671.2:g.113288207C>A	GRCh38
NC_000009.11:g.116050487C>A , CM000671.1:g.116050487C>A	GRCh37
NC_000009.10:g.115090308C>A	NCBI36
NG_034225.1:g.17574C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.965C>A MANE Select	ENSP00000363313.4:p.Thr322Lys
ENST00000374199.9:c.968C>A	ENSP00000363315.4:p.Thr323Lys
ENST00000374198.4:c.968C>A	ENSP00000363313.3:p.Thr323Lys
ENST00000374199.8:c.965C>A	ENSP00000363315.3:p.Thr322Lys
NM_001244926.1:c.965C>A	NP_001231855.1:p.Thr322Lys
NM_004697.4:c.968C>A	NP_004688.2:p.Thr323Lys
XM_005252300.2:c.239C>A	XP_005252357.1:p.Thr80Lys
XM_011519181.1:c.968C>A	XP_011517483.1:p.Thr323Lys
NM_001322266.1:c.239C>A	NP_001309195.1:p.Thr80Lys
NM_001322267.1:c.239C>A	NP_001309196.1:p.Thr80Lys
NR_136265.1:n.1078C>A
NR_136266.1:n.1075C>A
NM_001244926.2:c.965C>A MANE Select	NP_001231855.1:p.Thr322Lys
NM_001322266.2:c.239C>A	NP_001309195.1:p.Thr80Lys
NM_001322267.2:c.239C>A	NP_001309196.1:p.Thr80Lys
NM_004697.5:c.968C>A	NP_004688.2:p.Thr323Lys
NR_136265.2:n.1054C>A
NR_136266.2:n.1051C>A