Canonical Allele Identifier: CA397561915

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650861-A-G
• MyVariant Identifiers: chr17:g.1554155A>G (hg19) ; chr17:g.1650861A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650861A>G , CM000679.2:g.1650861A>G	GRCh38
NC_000017.10:g.1554155A>G , CM000679.1:g.1554155A>G	GRCh37
NC_000017.9:g.1500905A>G	NCBI36
NG_009118.1:g.39022T>C
NG_033061.1:g.4238T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6769T>C	ENSP00000460849.2:p.Phe2257Leu
ENST00000703537.1:c.2697T>C
ENST00000703538.1:c.*6672T>C	ENSP00000515361.1:n.*6672T>C
ENST00000703539.1:n.3263T>C
ENST00000703540.1:c.6802T>C	ENSP00000515362.1:p.Phe2268Leu
ENST00000703541.1:c.6814T>C	ENSP00000515363.1:p.Phe2272Leu
ENST00000304992.11:c.6949T>C MANE Select	ENSP00000304350.6:p.Phe2317Leu
ENST00000304992.10:c.6949T>C	ENSP00000304350.6:p.Phe2317Leu
ENST00000571958.1:c.163-15T>C
ENST00000572621.5:c.6949T>C	ENSP00000460348.1:p.Phe2317Leu
ENST00000572723.1:n.938T>C
NM_006445.3:c.6949T>C	NP_006436.3:p.Phe2317Leu
XM_024450537.1:c.6949T>C	XP_024306305.1:p.Phe2317Leu
NM_006445.4:c.6949T>C MANE Select	NP_006436.3:p.Phe2317Leu