Canonical Allele Identifier: CA497291762

Gene: PRPF8

Linked Data

• dbSNP Id: rs375319645
• MyVariant Identifiers: chr17:g.1554207C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650913C>G , CM000679.2:g.1650913C>G	GRCh38
NC_000017.10:g.1554207C>G , CM000679.1:g.1554207C>G	GRCh37
NC_000017.9:g.1500957C>G	NCBI36
NG_009118.1:g.38970G>C
NG_033061.1:g.4186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6717G>C	ENSP00000460849.2:p.Ala2239=
ENST00000703537.1:c.2645G>C
ENST00000703538.1:c.*6620G>C	ENSP00000515361.1:n.*6620G>C
ENST00000703539.1:n.3211G>C
ENST00000703540.1:c.6750G>C	ENSP00000515362.1:p.Ala2250=
ENST00000703541.1:c.6762G>C	ENSP00000515363.1:p.Ala2254=
ENST00000304992.11:c.6897G>C MANE Select	ENSP00000304350.6:p.Ala2299=
ENST00000304992.10:c.6897G>C	ENSP00000304350.6:p.Ala2299=
ENST00000571958.1:c.163-67G>C
ENST00000572621.5:c.6897G>C	ENSP00000460348.1:p.Ala2299=
ENST00000572723.1:n.886G>C
NM_006445.3:c.6897G>C	NP_006436.3:p.Ala2299=
XM_024450537.1:c.6897G>C	XP_024306305.1:p.Ala2299=
NM_006445.4:c.6897G>C MANE Select	NP_006436.3:p.Ala2299=