Canonical Allele Identifier: CA286849832

Gene: PRPF8

Linked Data

• dbSNP Id: rs897200482
• MyVariant Identifiers: chr17:g.1554343G>A (hg19) ; chr17:g.1651049G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651049G>A , CM000679.2:g.1651049G>A	GRCh38
NC_000017.10:g.1554343G>A , CM000679.1:g.1554343G>A	GRCh37
NC_000017.9:g.1501093G>A	NCBI36
NG_009118.1:g.38834C>T
NG_033061.1:g.4050C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6673+59C>T	ENSP00000460849.2:n.6673+59C>T
ENST00000703537.1:c.2601+59C>T
ENST00000703538.1:c.*6576+59C>T	ENSP00000515361.1:n.*6576+59C>T
ENST00000703539.1:n.3167+59C>T
ENST00000703540.1:c.6706+59C>T	ENSP00000515362.1:n.6706+59C>T
ENST00000703541.1:c.6718+59C>T	ENSP00000515363.1:n.6718+59C>T
ENST00000304992.11:c.6853+59C>T MANE Select	ENSP00000304350.6:n.6853+59C>T
ENST00000304992.10:c.6853+59C>T	ENSP00000304350.6:n.6853+59C>T
ENST00000571958.1:c.162+59C>T
ENST00000572621.5:c.6853+59C>T	ENSP00000460348.1:n.6853+59C>T
ENST00000572723.1:n.842+59C>T
NM_006445.3:c.6853+59C>T	NP_006436.3:n.6853+59C>T
XM_024450537.1:c.6853+59C>T	XP_024306305.1:n.6853+59C>T
NM_006445.4:c.6853+59C>T MANE Select	NP_006436.3:n.6853+59C>T