Canonical Allele Identifier: CA5195063

Gene: PRPF4

Linked Data

• ClinVar Variation Id: 1470155
• ClinVar RCV Id: RCV001995140
• dbSNP Id: rs372555065
• ExAC: 9:116050525 C / T
• gnomAD v2: 9-116050525-C-T
• gnomAD v4: 9-113288245-C-T
• MyVariant Identifiers: chr9:g.116050525C>T (hg19) ; chr9:g.113288245C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113288245C>T , CM000671.2:g.113288245C>T	GRCh38
NC_000009.11:g.116050525C>T , CM000671.1:g.116050525C>T	GRCh37
NC_000009.10:g.115090346C>T	NCBI36
NG_034225.1:g.17612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.1003C>T MANE Select	ENSP00000363313.4:p.Arg335Cys
ENST00000374199.9:c.1006C>T	ENSP00000363315.4:p.Arg336Cys
ENST00000374198.4:c.1006C>T	ENSP00000363313.3:p.Arg336Cys
ENST00000374199.8:c.1003C>T	ENSP00000363315.3:p.Arg335Cys
NM_001244926.1:c.1003C>T	NP_001231855.1:p.Arg335Cys
NM_004697.4:c.1006C>T	NP_004688.2:p.Arg336Cys
XM_005252300.2:c.277C>T	XP_005252357.1:p.Arg93Cys
XM_011519181.1:c.1006C>T	XP_011517483.1:p.Arg336Cys
NM_001322266.1:c.277C>T	NP_001309195.1:p.Arg93Cys
NM_001322267.1:c.277C>T	NP_001309196.1:p.Arg93Cys
NR_136265.1:n.1116C>T
NR_136266.1:n.1113C>T
NM_001244926.2:c.1003C>T MANE Select	NP_001231855.1:p.Arg335Cys
NM_001322266.2:c.277C>T	NP_001309195.1:p.Arg93Cys
NM_001322267.2:c.277C>T	NP_001309196.1:p.Arg93Cys
NM_004697.5:c.1006C>T	NP_004688.2:p.Arg336Cys
NR_136265.2:n.1092C>T
NR_136266.2:n.1089C>T