Canonical Allele Identifier: CA497291515

Gene: PRPF8

Linked Data

• dbSNP Id: rs1200079790
• gnomAD v4: 17-1650856-A-G
• MyVariant Identifiers: chr17:g.1554150A>G (hg19) ; chr17:g.1650856A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650856A>G , CM000679.2:g.1650856A>G	GRCh38
NC_000017.10:g.1554150A>G , CM000679.1:g.1554150A>G	GRCh37
NC_000017.9:g.1500900A>G	NCBI36
NG_009118.1:g.39027T>C
NG_033061.1:g.4243T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6774T>C	ENSP00000460849.2:p.Ala2258=
ENST00000703537.1:c.2702T>C
ENST00000703538.1:c.*6677T>C	ENSP00000515361.1:n.*6677T>C
ENST00000703539.1:n.3268T>C
ENST00000703540.1:c.6807T>C	ENSP00000515362.1:p.Ala2269=
ENST00000703541.1:c.6819T>C	ENSP00000515363.1:p.Ala2273=
ENST00000304992.11:c.6954T>C MANE Select	ENSP00000304350.6:p.Ala2318=
ENST00000304992.10:c.6954T>C	ENSP00000304350.6:p.Ala2318=
ENST00000571958.1:c.163-10T>C
ENST00000572621.5:c.6954T>C	ENSP00000460348.1:p.Ala2318=
ENST00000572723.1:n.943T>C
NM_006445.3:c.6954T>C	NP_006436.3:p.Ala2318=
XM_024450537.1:c.6954T>C	XP_024306305.1:p.Ala2318=
NM_006445.4:c.6954T>C MANE Select	NP_006436.3:p.Ala2318=