Canonical Allele Identifier: CA397564093

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554551T>A (hg19) ; chr17:g.1651257T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651257T>A , CM000679.2:g.1651257T>A	GRCh38
NC_000017.10:g.1554551T>A , CM000679.1:g.1554551T>A	GRCh37
NC_000017.9:g.1501301T>A	NCBI36
NG_009118.1:g.38626A>T
NG_033061.1:g.3842A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6524A>T	ENSP00000460849.2:p.Tyr2175Phe
ENST00000703537.1:c.2452A>T
ENST00000703538.1:c.*6427A>T	ENSP00000515361.1:n.*6427A>T
ENST00000703539.1:n.3018A>T
ENST00000703540.1:c.6557A>T	ENSP00000515362.1:p.Tyr2186Phe
ENST00000703541.1:c.6569A>T	ENSP00000515363.1:p.Tyr2190Phe
ENST00000304992.11:c.6704A>T MANE Select	ENSP00000304350.6:p.Tyr2235Phe
ENST00000304992.10:c.6704A>T	ENSP00000304350.6:p.Tyr2235Phe
ENST00000571958.1:c.13A>T
ENST00000572621.5:c.6704A>T	ENSP00000460348.1:p.Tyr2235Phe
ENST00000572723.1:n.693A>T
NM_006445.3:c.6704A>T	NP_006436.3:p.Tyr2235Phe
XM_024450537.1:c.6704A>T	XP_024306305.1:p.Tyr2235Phe
NM_006445.4:c.6704A>T MANE Select	NP_006436.3:p.Tyr2235Phe