Canonical Allele Identifier: CA497388929

Gene: PRPF8

Linked Data

• dbSNP Id: rs1448528780
• gnomAD v2: 17-1554556-A-G
• gnomAD v3: 17-1651262-A-G
• gnomAD v4: 17-1651262-A-G
• MyVariant Identifiers: chr17:g.1554556A>G (hg19) ; chr17:g.1651262A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651262A>G , CM000679.2:g.1651262A>G	GRCh38
NC_000017.10:g.1554556A>G , CM000679.1:g.1554556A>G	GRCh37
NC_000017.9:g.1501306A>G	NCBI36
NG_009118.1:g.38621T>C
NG_033061.1:g.3837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6519T>C	ENSP00000460849.2:p.Ser2173=
ENST00000703537.1:c.2447T>C
ENST00000703538.1:c.*6422T>C	ENSP00000515361.1:n.*6422T>C
ENST00000703539.1:n.3013T>C
ENST00000703540.1:c.6552T>C	ENSP00000515362.1:p.Ser2184=
ENST00000703541.1:c.6564T>C	ENSP00000515363.1:p.Ser2188=
ENST00000304992.11:c.6699T>C MANE Select	ENSP00000304350.6:p.Ser2233=
ENST00000304992.10:c.6699T>C	ENSP00000304350.6:p.Ser2233=
ENST00000571958.1:c.8T>C
ENST00000572621.5:c.6699T>C	ENSP00000460348.1:p.Ser2233=
ENST00000572723.1:n.688T>C
NM_006445.3:c.6699T>C	NP_006436.3:p.Ser2233=
XM_024450537.1:c.6699T>C	XP_024306305.1:p.Ser2233=
NM_006445.4:c.6699T>C MANE Select	NP_006436.3:p.Ser2233=