Canonical Allele Identifier: CA8272570

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1681695G>A , CM000679.2:g.1681695G>A	GRCh38
NC_000017.10:g.1584989G>A , CM000679.1:g.1584989G>A	GRCh37
NC_000017.9:g.1531739G>A	NCBI36
NG_009118.1:g.8188C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.654-5C>T MANE Select	NP_006436.3:n.654-5C>T
ENST00000304992.11:c.654-5C>T MANE Select	ENSP00000304350.6:n.654-5C>T
NM_006445.3:c.654-5C>T	NP_006436.3:n.654-5C>T
ENST00000304992.10:c.654-5C>T	ENSP00000304350.6:n.654-5C>T
ENST00000572621.5:c.654-5C>T	ENSP00000460348.1:n.654-5C>T
ENST00000573725.2:c.654-5C>T	ENSP00000460849.2:n.654-5C>T
ENST00000577001.1:c.489-5C>T	ENSP00000458151.1:n.489-5C>T
ENST00000703538.1:c.*377-5C>T	ENSP00000515361.1:n.*377-5C>T
ENST00000703540.1:c.654-5C>T	ENSP00000515362.1:n.654-5C>T
ENST00000703541.1:c.654-5C>T	ENSP00000515363.1:n.654-5C>T
ENST00000703542.1:n.454-5C>T
XM_024450537.1:c.654-5C>T	XP_024306305.1:n.654-5C>T