Canonical Allele Identifier: CA8271042

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 3007550
• ClinVar RCV Id: RCV003864149
• dbSNP Id: rs774814867
• ExAC: 17:1554142 T / A
• gnomAD v2: 17-1554142-T-A
• gnomAD v4: 17-1650848-T-A
• MyVariant Identifiers: chr17:g.1554142T>A (hg19) ; chr17:g.1650848T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650848T>A , CM000679.2:g.1650848T>A	GRCh38
NC_000017.10:g.1554142T>A , CM000679.1:g.1554142T>A	GRCh37
NC_000017.9:g.1500892T>A	NCBI36
NG_009118.1:g.39035A>T
NG_033061.1:g.4251A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000573725.2:c.6782A>T	ENSP00000460849.2:p.Gln2261Leu
ENST00000703537.1:c.2710A>T
ENST00000703538.1:c.*6685A>T	ENSP00000515361.1:n.*6685A>T
ENST00000703539.1:n.3276A>T
ENST00000703540.1:c.6815A>T	ENSP00000515362.1:p.Gln2272Leu
ENST00000703541.1:c.6827A>T	ENSP00000515363.1:p.Gln2276Leu
ENST00000304992.11:c.6962A>T MANE Select	ENSP00000304350.6:p.Gln2321Leu
ENST00000304992.10:c.6962A>T	ENSP00000304350.6:p.Gln2321Leu
ENST00000571958.1:c.163-2A>T
ENST00000572621.5:c.6962A>T	ENSP00000460348.1:p.Gln2321Leu
ENST00000572723.1:n.951A>T
NM_006445.3:c.6962A>T	NP_006436.3:p.Gln2321Leu
XM_024450537.1:c.6962A>T	XP_024306305.1:p.Gln2321Leu
NM_006445.4:c.6962A>T MANE Select	NP_006436.3:p.Gln2321Leu