Canonical Allele Identifier: CA624564876

Gene: PRPF8

Linked Data

• dbSNP Id: rs1354935466
• gnomAD v2: 17-1554090-A-G
• gnomAD v3: 17-1650796-A-G
• gnomAD v4: 17-1650796-A-G
• MyVariant Identifiers: chr17:g.1554090A>G (hg19) ; chr17:g.1650796A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650796A>G , CM000679.2:g.1650796A>G	GRCh38
NC_000017.10:g.1554090A>G , CM000679.1:g.1554090A>G	GRCh37
NC_000017.9:g.1500840A>G	NCBI36
NG_009118.1:g.39087T>C
NG_033061.1:g.4303T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000573725.2:c.*6T>C	ENSP00000460849.2:n.*6T>C
ENST00000703537.1:c.2762T>C
ENST00000703538.1:c.*6737T>C	ENSP00000515361.1:n.*6737T>C
ENST00000703539.1:n.3328T>C
ENST00000703540.1:c.*6T>C	ENSP00000515362.1:n.*6T>C
ENST00000304992.11:c.*6T>C MANE Select	ENSP00000304350.6:n.*6T>C
ENST00000304992.10:c.*6T>C	ENSP00000304350.6:n.*6T>C
ENST00000571958.1:c.213T>C
ENST00000572621.5:c.*6T>C	ENSP00000460348.1:n.*6T>C
NM_006445.3:c.*6T>C	NP_006436.3:n.*6T>C
XM_024450537.1:c.*6T>C	XP_024306305.1:n.*6T>C
NM_006445.4:c.*6T>C MANE Select	NP_006436.3:n.*6T>C