Canonical Allele Identifier: CA8271045

Gene: PRPF8

Linked Data

• dbSNP Id: rs752997229
• ExAC: 17:1554176 T / G
• gnomAD v2: 17-1554176-T-G
• gnomAD v3: 17-1650882-T-G
• gnomAD v4: 17-1650882-T-G
• MyVariant Identifiers: chr17:g.1554176T>G (hg19) ; chr17:g.1650882T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650882T>G , CM000679.2:g.1650882T>G	GRCh38
NC_000017.10:g.1554176T>G , CM000679.1:g.1554176T>G	GRCh37
NC_000017.9:g.1500926T>G	NCBI36
NG_009118.1:g.39001A>C
NG_033061.1:g.4217A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6748A>C	ENSP00000460849.2:p.Arg2250=
ENST00000703537.1:c.2676A>C
ENST00000703538.1:c.*6651A>C	ENSP00000515361.1:n.*6651A>C
ENST00000703539.1:n.3242A>C
ENST00000703540.1:c.6781A>C	ENSP00000515362.1:p.Arg2261=
ENST00000703541.1:c.6793A>C	ENSP00000515363.1:p.Arg2265=
ENST00000304992.11:c.6928A>C MANE Select	ENSP00000304350.6:p.Arg2310=
ENST00000304992.10:c.6928A>C	ENSP00000304350.6:p.Arg2310=
ENST00000571958.1:c.163-36A>C
ENST00000572621.5:c.6928A>C	ENSP00000460348.1:p.Arg2310=
ENST00000572723.1:n.917A>C
NM_006445.3:c.6928A>C	NP_006436.3:p.Arg2310=
XM_024450537.1:c.6928A>C	XP_024306305.1:p.Arg2310=
NM_006445.4:c.6928A>C MANE Select	NP_006436.3:p.Arg2310=