Canonical Allele Identifier: CA397561934

Gene: PRPF8

Linked Data

• dbSNP Id: rs1911000221
• gnomAD v4: 17-1650864-T-G
• MyVariant Identifiers: chr17:g.1554158T>G (hg19) ; chr17:g.1650864T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650864T>G , CM000679.2:g.1650864T>G	GRCh38
NC_000017.10:g.1554158T>G , CM000679.1:g.1554158T>G	GRCh37
NC_000017.9:g.1500908T>G	NCBI36
NG_009118.1:g.39019A>C
NG_033061.1:g.4235A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6766A>C	ENSP00000460849.2:p.Asn2256His
ENST00000703537.1:c.2694A>C
ENST00000703538.1:c.*6669A>C	ENSP00000515361.1:n.*6669A>C
ENST00000703539.1:n.3260A>C
ENST00000703540.1:c.6799A>C	ENSP00000515362.1:p.Asn2267His
ENST00000703541.1:c.6811A>C	ENSP00000515363.1:p.Asn2271His
ENST00000304992.11:c.6946A>C MANE Select	ENSP00000304350.6:p.Asn2316His
ENST00000304992.10:c.6946A>C	ENSP00000304350.6:p.Asn2316His
ENST00000571958.1:c.163-18A>C
ENST00000572621.5:c.6946A>C	ENSP00000460348.1:p.Asn2316His
ENST00000572723.1:n.935A>C
NM_006445.3:c.6946A>C	NP_006436.3:p.Asn2316His
XM_024450537.1:c.6946A>C	XP_024306305.1:p.Asn2316His
NM_006445.4:c.6946A>C MANE Select	NP_006436.3:p.Asn2316His