Canonical Allele Identifier: CA5195062

Gene: PRPF4

Linked Data

• dbSNP Id: rs758384850
• ExAC: 9:116050508 T / C
• gnomAD v2: 9-116050508-T-C
• MyVariant Identifiers: chr9:g.116050508T>C (hg19) ; chr9:g.113288228T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113288228T>C , CM000671.2:g.113288228T>C	GRCh38
NC_000009.11:g.116050508T>C , CM000671.1:g.116050508T>C	GRCh37
NC_000009.10:g.115090329T>C	NCBI36
NG_034225.1:g.17595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.986T>C MANE Select	ENSP00000363313.4:p.Met329Thr
ENST00000374199.9:c.989T>C	ENSP00000363315.4:p.Met330Thr
ENST00000374198.4:c.989T>C	ENSP00000363313.3:p.Met330Thr
ENST00000374199.8:c.986T>C	ENSP00000363315.3:p.Met329Thr
NM_001244926.1:c.986T>C	NP_001231855.1:p.Met329Thr
NM_004697.4:c.989T>C	NP_004688.2:p.Met330Thr
XM_005252300.2:c.260T>C	XP_005252357.1:p.Met87Thr
XM_011519181.1:c.989T>C	XP_011517483.1:p.Met330Thr
NM_001322266.1:c.260T>C	NP_001309195.1:p.Met87Thr
NM_001322267.1:c.260T>C	NP_001309196.1:p.Met87Thr
NR_136265.1:n.1099T>C
NR_136266.1:n.1096T>C
NM_001244926.2:c.986T>C MANE Select	NP_001231855.1:p.Met329Thr
NM_001322266.2:c.260T>C	NP_001309195.1:p.Met87Thr
NM_001322267.2:c.260T>C	NP_001309196.1:p.Met87Thr
NM_004697.5:c.989T>C	NP_004688.2:p.Met330Thr
NR_136265.2:n.1075T>C
NR_136266.2:n.1072T>C