Canonical Allele Identifier: CA497291437

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 2018742
• ClinVar RCV Id: RCV002870890
• gnomAD v4: 17-1650829-A-G
• MyVariant Identifiers: chr17:g.1554123A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650829A>G , CM000679.2:g.1650829A>G	GRCh38
NC_000017.10:g.1554123A>G , CM000679.1:g.1554123A>G	GRCh37
NC_000017.9:g.1500873A>G	NCBI36
NG_009118.1:g.39054T>C
NG_033061.1:g.4270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6801T>C	ENSP00000460849.2:p.Ser2267=
ENST00000703537.1:c.2729T>C
ENST00000703538.1:c.*6704T>C	ENSP00000515361.1:n.*6704T>C
ENST00000703539.1:n.3295T>C
ENST00000703540.1:c.6834T>C	ENSP00000515362.1:p.Ser2278=
ENST00000703541.1:c.6846T>C	ENSP00000515363.1:p.Ser2282=
ENST00000304992.11:c.6981T>C MANE Select	ENSP00000304350.6:p.Ser2327=
ENST00000304992.10:c.6981T>C	ENSP00000304350.6:p.Ser2327=
ENST00000571958.1:c.180T>C
ENST00000572621.5:c.6981T>C	ENSP00000460348.1:p.Ser2327=
NM_006445.3:c.6981T>C	NP_006436.3:p.Ser2327=
XM_024450537.1:c.6981T>C	XP_024306305.1:p.Ser2327=
NM_006445.4:c.6981T>C MANE Select	NP_006436.3:p.Ser2327=