Canonical Allele Identifier: CA259993
Gene: PRPF6 HGNC NCBI
ZNF512B HGNC NCBI

Linked Data

ClinVar Variation Id: 31089
ClinVar RCV Id: RCV000024084 RCV001852563
dbSNP Id: rs387907100
gnomAD v2: 20-62658491-C-T
gnomAD v4: 20-64027138-C-T
COSMIC: COSM4442915
MyVariant Identifiers: chr20:g.62658491C>T (hg19) chr20:g.64027138C>T (hg38)
PubMed: PMID:21549338
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.64027138C>T , CM000682.2:g.64027138C>T GRCh38
NC_000020.10:g.62658491C>T , CM000682.1:g.62658491C>T GRCh37
NC_000020.9:g.62128935C>T NCBI36
NG_029719.1:g.51061C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266079.5:c.2185C>T (PRPF6) MANE Select ENSP00000266079.4:p.Arg729Trp
ENST00000217130.4:c.-7+11401G>A (ZNF512B) ENSP00000217130.3:n.-7+11401G>A
ENST00000266079.4:c.2185C>T (PRPF6) ENSP00000266079.4:p.Arg729Trp
ENST00000450537.5:c.-6+21567G>A (ZNF512B) ENSP00000393795.1:n.-6+21567G>A
NM_012469.3:c.2185C>T (PRPF6) NP_036601.2:p.Arg729Trp
XM_006723769.2:c.1966C>T (PRPF6) XP_006723832.1:p.Arg656Trp
XM_006723769.3:c.1966C>T (PRPF6) XP_006723832.1:p.Arg656Trp
NM_012469.4:c.2185C>T (PRPF6) MANE Select NP_036601.2:p.Arg729Trp
Search 100 bp 5'
Search 100 bp 3'