Canonical Allele Identifier: CA397563787

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 984538
• ClinVar RCV Id: RCV001264619
• dbSNP Id: rs1911033774
• MyVariant Identifiers: chr17:g.1554464G>A (hg19) ; chr17:g.1651170G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651170G>A , CM000679.2:g.1651170G>A	GRCh38
NC_000017.10:g.1554464G>A , CM000679.1:g.1554464G>A	GRCh37
NC_000017.9:g.1501214G>A	NCBI36
NG_009118.1:g.38713C>T
NG_033061.1:g.3929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6611C>T	ENSP00000460849.2:p.Ser2204Leu
ENST00000703537.1:c.2539C>T
ENST00000703538.1:c.*6514C>T	ENSP00000515361.1:n.*6514C>T
ENST00000703539.1:n.3105C>T
ENST00000703540.1:c.6644C>T	ENSP00000515362.1:p.Ser2215Leu
ENST00000703541.1:c.6656C>T	ENSP00000515363.1:p.Ser2219Leu
ENST00000304992.11:c.6791C>T MANE Select	ENSP00000304350.6:p.Ser2264Leu
ENST00000304992.10:c.6791C>T	ENSP00000304350.6:p.Ser2264Leu
ENST00000571958.1:c.100C>T
ENST00000572621.5:c.6791C>T	ENSP00000460348.1:p.Ser2264Leu
ENST00000572723.1:n.780C>T
NM_006445.3:c.6791C>T	NP_006436.3:p.Ser2264Leu
XM_024450537.1:c.6791C>T	XP_024306305.1:p.Ser2264Leu
NM_006445.4:c.6791C>T MANE Select	NP_006436.3:p.Ser2264Leu