Canonical Allele Identifier: CA397562221

Gene: PRPF8

Linked Data

• dbSNP Id: rs1470072168
• gnomAD v2: 17-1554200-T-G
• gnomAD v4: 17-1650906-T-G
• MyVariant Identifiers: chr17:g.1554200T>G (hg19) ; chr17:g.1650906T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650906T>G , CM000679.2:g.1650906T>G	GRCh38
NC_000017.10:g.1554200T>G , CM000679.1:g.1554200T>G	GRCh37
NC_000017.9:g.1500950T>G	NCBI36
NG_009118.1:g.38977A>C
NG_033061.1:g.4193A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6724A>C	ENSP00000460849.2:p.Lys2242Gln
ENST00000703537.1:c.2652A>C
ENST00000703538.1:c.*6627A>C	ENSP00000515361.1:n.*6627A>C
ENST00000703539.1:n.3218A>C
ENST00000703540.1:c.6757A>C	ENSP00000515362.1:p.Lys2253Gln
ENST00000703541.1:c.6769A>C	ENSP00000515363.1:p.Lys2257Gln
ENST00000304992.11:c.6904A>C MANE Select	ENSP00000304350.6:p.Lys2302Gln
ENST00000304992.10:c.6904A>C	ENSP00000304350.6:p.Lys2302Gln
ENST00000571958.1:c.163-60A>C
ENST00000572621.5:c.6904A>C	ENSP00000460348.1:p.Lys2302Gln
ENST00000572723.1:n.893A>C
NM_006445.3:c.6904A>C	NP_006436.3:p.Lys2302Gln
XM_024450537.1:c.6904A>C	XP_024306305.1:p.Lys2302Gln
NM_006445.4:c.6904A>C MANE Select	NP_006436.3:p.Lys2302Gln