Canonical Allele Identifier: CA8271959

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1674657A>G , CM000679.2:g.1674657A>G	GRCh38
NC_000017.10:g.1577951A>G , CM000679.1:g.1577951A>G	GRCh37
NC_000017.9:g.1524701A>G	NCBI36
NG_009118.1:g.15226T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.3084T>C MANE Select	NP_006436.3:p.Tyr1028=
ENST00000304992.11:c.3084T>C MANE Select	ENSP00000304350.6:p.Tyr1028=
NM_006445.3:c.3084T>C	NP_006436.3:p.Tyr1028=
ENST00000304992.10:c.3084T>C	ENSP00000304350.6:p.Tyr1028=
ENST00000572621.5:c.3084T>C	ENSP00000460348.1:p.Tyr1028=
ENST00000573725.2:c.3084T>C	ENSP00000460849.2:p.Tyr1028=
ENST00000576958.1:n.403T>C
ENST00000577001.1:c.2919T>C	ENSP00000458151.1:p.Tyr973=
ENST00000703538.1:c.*2807T>C	ENSP00000515361.1:n.*2807T>C
ENST00000703540.1:c.3084T>C	ENSP00000515362.1:p.Tyr1028=
ENST00000703541.1:c.2949T>C	ENSP00000515363.1:p.Tyr983=
XM_024450537.1:c.3084T>C	XP_024306305.1:p.Tyr1028=