Canonical Allele Identifier: CA8271105

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1981863
• ClinVar RCV Id: RCV002794884
• dbSNP Id: rs770322405
• ExAC: 17:1554515 T / C
• gnomAD v2: 17-1554515-T-C
• gnomAD v3: 17-1651221-T-C
• gnomAD v4: 17-1651221-T-C
• MyVariant Identifiers: chr17:g.1554515T>C (hg19) ; chr17:g.1651221T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651221T>C , CM000679.2:g.1651221T>C	GRCh38
NC_000017.10:g.1554515T>C , CM000679.1:g.1554515T>C	GRCh37
NC_000017.9:g.1501265T>C	NCBI36
NG_009118.1:g.38662A>G
NG_033061.1:g.3878A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6560A>G	ENSP00000460849.2:p.Asn2187Ser
ENST00000703537.1:c.2488A>G
ENST00000703538.1:c.*6463A>G	ENSP00000515361.1:n.*6463A>G
ENST00000703539.1:n.3054A>G
ENST00000703540.1:c.6593A>G	ENSP00000515362.1:p.Asn2198Ser
ENST00000703541.1:c.6605A>G	ENSP00000515363.1:p.Asn2202Ser
ENST00000304992.11:c.6740A>G MANE Select	ENSP00000304350.6:p.Asn2247Ser
ENST00000304992.10:c.6740A>G	ENSP00000304350.6:p.Asn2247Ser
ENST00000571958.1:c.49A>G
ENST00000572621.5:c.6740A>G	ENSP00000460348.1:p.Asn2247Ser
ENST00000572723.1:n.729A>G
NM_006445.3:c.6740A>G	NP_006436.3:p.Asn2247Ser
XM_024450537.1:c.6740A>G	XP_024306305.1:p.Asn2247Ser
NM_006445.4:c.6740A>G MANE Select	NP_006436.3:p.Asn2247Ser