Canonical Allele Identifier: CA397564015

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554528C>A (hg19) ; chr17:g.1651234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651234C>A , CM000679.2:g.1651234C>A	GRCh38
NC_000017.10:g.1554528C>A , CM000679.1:g.1554528C>A	GRCh37
NC_000017.9:g.1501278C>A	NCBI36
NG_009118.1:g.38649G>T
NG_033061.1:g.3865G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6547G>T	ENSP00000460849.2:p.Asp2183Tyr
ENST00000703537.1:c.2475G>T
ENST00000703538.1:c.*6450G>T	ENSP00000515361.1:n.*6450G>T
ENST00000703539.1:n.3041G>T
ENST00000703540.1:c.6580G>T	ENSP00000515362.1:p.Asp2194Tyr
ENST00000703541.1:c.6592G>T	ENSP00000515363.1:p.Asp2198Tyr
ENST00000304992.11:c.6727G>T MANE Select	ENSP00000304350.6:p.Asp2243Tyr
ENST00000304992.10:c.6727G>T	ENSP00000304350.6:p.Asp2243Tyr
ENST00000571958.1:c.36G>T
ENST00000572621.5:c.6727G>T	ENSP00000460348.1:p.Asp2243Tyr
ENST00000572723.1:n.716G>T
NM_006445.3:c.6727G>T	NP_006436.3:p.Asp2243Tyr
XM_024450537.1:c.6727G>T	XP_024306305.1:p.Asp2243Tyr
NM_006445.4:c.6727G>T MANE Select	NP_006436.3:p.Asp2243Tyr