Canonical Allele Identifier: CA497388868

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554433A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651139A>G , CM000679.2:g.1651139A>G	GRCh38
NC_000017.10:g.1554433A>G , CM000679.1:g.1554433A>G	GRCh37
NC_000017.9:g.1501183A>G	NCBI36
NG_009118.1:g.38744T>C
NG_033061.1:g.3960T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6642T>C	ENSP00000460849.2:p.Pro2214=
ENST00000703537.1:c.2570T>C
ENST00000703538.1:c.*6545T>C	ENSP00000515361.1:n.*6545T>C
ENST00000703539.1:n.3136T>C
ENST00000703540.1:c.6675T>C	ENSP00000515362.1:p.Pro2225=
ENST00000703541.1:c.6687T>C	ENSP00000515363.1:p.Pro2229=
ENST00000304992.11:c.6822T>C MANE Select	ENSP00000304350.6:p.Pro2274=
ENST00000304992.10:c.6822T>C	ENSP00000304350.6:p.Pro2274=
ENST00000571958.1:c.131T>C
ENST00000572621.5:c.6822T>C	ENSP00000460348.1:p.Pro2274=
ENST00000572723.1:n.811T>C
NM_006445.3:c.6822T>C	NP_006436.3:p.Pro2274=
XM_024450537.1:c.6822T>C	XP_024306305.1:p.Pro2274=
NM_006445.4:c.6822T>C MANE Select	NP_006436.3:p.Pro2274=