Canonical Allele Identifier: CA8271038

Gene: PRPF8

Linked Data

• dbSNP Id: rs747987730
• ExAC: 17:1554124 G / A
• gnomAD v2: 17-1554124-G-A
• gnomAD v4: 17-1650830-G-A
• MyVariant Identifiers: chr17:g.1554124G>A (hg19) ; chr17:g.1650830G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650830G>A , CM000679.2:g.1650830G>A	GRCh38
NC_000017.10:g.1554124G>A , CM000679.1:g.1554124G>A	GRCh37
NC_000017.9:g.1500874G>A	NCBI36
NG_009118.1:g.39053C>T
NG_033061.1:g.4269C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6800C>T	ENSP00000460849.2:p.Ser2267Phe
ENST00000703537.1:c.2728C>T
ENST00000703538.1:c.*6703C>T	ENSP00000515361.1:n.*6703C>T
ENST00000703539.1:n.3294C>T
ENST00000703540.1:c.6833C>T	ENSP00000515362.1:p.Ser2278Phe
ENST00000703541.1:c.6845C>T	ENSP00000515363.1:p.Ser2282Phe
ENST00000304992.11:c.6980C>T MANE Select	ENSP00000304350.6:p.Ser2327Phe
ENST00000304992.10:c.6980C>T	ENSP00000304350.6:p.Ser2327Phe
ENST00000571958.1:c.179C>T
ENST00000572621.5:c.6980C>T	ENSP00000460348.1:p.Ser2327Phe
NM_006445.3:c.6980C>T	NP_006436.3:p.Ser2327Phe
XM_024450537.1:c.6980C>T	XP_024306305.1:p.Ser2327Phe
NM_006445.4:c.6980C>T MANE Select	NP_006436.3:p.Ser2327Phe