Canonical Allele Identifier: CA397563847

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554480C>G (hg19) ; chr17:g.1651186C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651186C>G , CM000679.2:g.1651186C>G	GRCh38
NC_000017.10:g.1554480C>G , CM000679.1:g.1554480C>G	GRCh37
NC_000017.9:g.1501230C>G	NCBI36
NG_009118.1:g.38697G>C
NG_033061.1:g.3913G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6595G>C	ENSP00000460849.2:p.Val2199Leu
ENST00000703537.1:c.2523G>C
ENST00000703538.1:c.*6498G>C	ENSP00000515361.1:n.*6498G>C
ENST00000703539.1:n.3089G>C
ENST00000703540.1:c.6628G>C	ENSP00000515362.1:p.Val2210Leu
ENST00000703541.1:c.6640G>C	ENSP00000515363.1:p.Val2214Leu
ENST00000304992.11:c.6775G>C MANE Select	ENSP00000304350.6:p.Val2259Leu
ENST00000304992.10:c.6775G>C	ENSP00000304350.6:p.Val2259Leu
ENST00000571958.1:c.84G>C
ENST00000572621.5:c.6775G>C	ENSP00000460348.1:p.Val2259Leu
ENST00000572723.1:n.764G>C
NM_006445.3:c.6775G>C	NP_006436.3:p.Val2259Leu
XM_024450537.1:c.6775G>C	XP_024306305.1:p.Val2259Leu
NM_006445.4:c.6775G>C MANE Select	NP_006436.3:p.Val2259Leu