Canonical Allele Identifier: CA497388893

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554478C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651184C>G , CM000679.2:g.1651184C>G	GRCh38
NC_000017.10:g.1554478C>G , CM000679.1:g.1554478C>G	GRCh37
NC_000017.9:g.1501228C>G	NCBI36
NG_009118.1:g.38699G>C
NG_033061.1:g.3915G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6597G>C	ENSP00000460849.2:p.Val2199=
ENST00000703537.1:c.2525G>C
ENST00000703538.1:c.*6500G>C	ENSP00000515361.1:n.*6500G>C
ENST00000703539.1:n.3091G>C
ENST00000703540.1:c.6630G>C	ENSP00000515362.1:p.Val2210=
ENST00000703541.1:c.6642G>C	ENSP00000515363.1:p.Val2214=
ENST00000304992.11:c.6777G>C MANE Select	ENSP00000304350.6:p.Val2259=
ENST00000304992.10:c.6777G>C	ENSP00000304350.6:p.Val2259=
ENST00000571958.1:c.86G>C
ENST00000572621.5:c.6777G>C	ENSP00000460348.1:p.Val2259=
ENST00000572723.1:n.766G>C
NM_006445.3:c.6777G>C	NP_006436.3:p.Val2259=
XM_024450537.1:c.6777G>C	XP_024306305.1:p.Val2259=
NM_006445.4:c.6777G>C MANE Select	NP_006436.3:p.Val2259=