Canonical Allele Identifier: CA8271942

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1674489G>C , CM000679.2:g.1674489G>C	GRCh38
NC_000017.10:g.1577783G>C , CM000679.1:g.1577783G>C	GRCh37
NC_000017.9:g.1524533G>C	NCBI36
NG_009118.1:g.15394C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.3252C>G MANE Select	NP_006436.3:p.Pro1084=
ENST00000304992.11:c.3252C>G MANE Select	ENSP00000304350.6:p.Pro1084=
NM_006445.3:c.3252C>G	NP_006436.3:p.Pro1084=
ENST00000304992.10:c.3252C>G	ENSP00000304350.6:p.Pro1084=
ENST00000572621.5:c.3252C>G	ENSP00000460348.1:p.Pro1084=
ENST00000573725.2:c.3252C>G	ENSP00000460849.2:p.Pro1084=
ENST00000703538.1:c.*2975C>G	ENSP00000515361.1:n.*2975C>G
ENST00000703540.1:c.3252C>G	ENSP00000515362.1:p.Pro1084=
ENST00000703541.1:c.3117C>G	ENSP00000515363.1:p.Pro1039=
XM_024450537.1:c.3252C>G	XP_024306305.1:p.Pro1084=