Canonical Allele Identifier: CA170079
Gene: PRPF4 HGNC NCBI

Linked Data

ClinVar Variation Id: 143057
ClinVar RCV Id: RCV000132564
dbSNP Id: rs587777599
gnomAD v2: 9-116050463-C-T
gnomAD v4: 9-113288183-C-T
MyVariant Identifiers: chr9:g.116050463C>T (hg19) chr9:g.113288183C>T (hg38)
PubMed: PMID:24419317
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113288183C>T , CM000671.2:g.113288183C>T GRCh38
NC_000009.11:g.116050463C>T , CM000671.1:g.116050463C>T GRCh37
NC_000009.10:g.115090284C>T NCBI36
NG_034225.1:g.17550C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374198.5:c.941C>T MANE Select ENSP00000363313.4:p.Pro314Leu
ENST00000374199.9:c.944C>T ENSP00000363315.4:p.Pro315Leu
ENST00000374198.4:c.944C>T ENSP00000363313.3:p.Pro315Leu
ENST00000374199.8:c.941C>T ENSP00000363315.3:p.Pro314Leu
NM_001244926.1:c.941C>T NP_001231855.1:p.Pro314Leu
NM_004697.4:c.944C>T NP_004688.2:p.Pro315Leu
XM_005252300.2:c.215C>T XP_005252357.1:p.Pro72Leu
XM_011519181.1:c.944C>T XP_011517483.1:p.Pro315Leu
NM_001322266.1:c.215C>T NP_001309195.1:p.Pro72Leu
NM_001322267.1:c.215C>T NP_001309196.1:p.Pro72Leu
NR_136265.1:n.1054C>T
NR_136266.1:n.1051C>T
NM_001244926.2:c.941C>T MANE Select NP_001231855.1:p.Pro314Leu
NM_001322266.2:c.215C>T NP_001309195.1:p.Pro72Leu
NM_001322267.2:c.215C>T NP_001309196.1:p.Pro72Leu
NM_004697.5:c.944C>T NP_004688.2:p.Pro315Leu
NR_136265.2:n.1030C>T
NR_136266.2:n.1027C>T
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