Canonical Allele Identifier: CA8271098

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 746575
• ClinVar RCV Id: RCV000923192
• dbSNP Id: rs746132385
• ExAC: 17:1554487 A / G
• gnomAD v2: 17-1554487-A-G
• gnomAD v3: 17-1651193-A-G
• gnomAD v4: 17-1651193-A-G
• MyVariant Identifiers: chr17:g.1554487A>G (hg19) ; chr17:g.1651193A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651193A>G , CM000679.2:g.1651193A>G	GRCh38
NC_000017.10:g.1554487A>G , CM000679.1:g.1554487A>G	GRCh37
NC_000017.9:g.1501237A>G	NCBI36
NG_009118.1:g.38690T>C
NG_033061.1:g.3906T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6588T>C	ENSP00000460849.2:p.Tyr2196=
ENST00000703537.1:c.2516T>C
ENST00000703538.1:c.*6491T>C	ENSP00000515361.1:n.*6491T>C
ENST00000703539.1:n.3082T>C
ENST00000703540.1:c.6621T>C	ENSP00000515362.1:p.Tyr2207=
ENST00000703541.1:c.6633T>C	ENSP00000515363.1:p.Tyr2211=
ENST00000304992.11:c.6768T>C MANE Select	ENSP00000304350.6:p.Tyr2256=
ENST00000304992.10:c.6768T>C	ENSP00000304350.6:p.Tyr2256=
ENST00000571958.1:c.77T>C
ENST00000572621.5:c.6768T>C	ENSP00000460348.1:p.Tyr2256=
ENST00000572723.1:n.757T>C
NM_006445.3:c.6768T>C	NP_006436.3:p.Tyr2256=
XM_024450537.1:c.6768T>C	XP_024306305.1:p.Tyr2256=
NM_006445.4:c.6768T>C MANE Select	NP_006436.3:p.Tyr2256=