Canonical Allele Identifier: CA497388887

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1651172-C-T
• MyVariant Identifiers: chr17:g.1554466C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651172C>T , CM000679.2:g.1651172C>T	GRCh38
NC_000017.10:g.1554466C>T , CM000679.1:g.1554466C>T	GRCh37
NC_000017.9:g.1501216C>T	NCBI36
NG_009118.1:g.38711G>A
NG_033061.1:g.3927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6609G>A	ENSP00000460849.2:p.Leu2203=
ENST00000703537.1:c.2537G>A
ENST00000703538.1:c.*6512G>A	ENSP00000515361.1:n.*6512G>A
ENST00000703539.1:n.3103G>A
ENST00000703540.1:c.6642G>A	ENSP00000515362.1:p.Leu2214=
ENST00000703541.1:c.6654G>A	ENSP00000515363.1:p.Leu2218=
ENST00000304992.11:c.6789G>A MANE Select	ENSP00000304350.6:p.Leu2263=
ENST00000304992.10:c.6789G>A	ENSP00000304350.6:p.Leu2263=
ENST00000571958.1:c.98G>A
ENST00000572621.5:c.6789G>A	ENSP00000460348.1:p.Leu2263=
ENST00000572723.1:n.778G>A
NM_006445.3:c.6789G>A	NP_006436.3:p.Leu2263=
XM_024450537.1:c.6789G>A	XP_024306305.1:p.Leu2263=
NM_006445.4:c.6789G>A MANE Select	NP_006436.3:p.Leu2263=