Canonical Allele Identifier: CA397557866

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1677680-C-A
• MyVariant Identifiers: chr17:g.1580974C>A (hg19) ; chr17:g.1677680C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1677680C>A , CM000679.2:g.1677680C>A	GRCh38
NC_000017.10:g.1580974C>A , CM000679.1:g.1580974C>A	GRCh37
NC_000017.9:g.1527724C>A	NCBI36
NG_009118.1:g.12203G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.1869G>T	ENSP00000460849.2:p.Lys623Asn
ENST00000703538.1:c.*1592G>T	ENSP00000515361.1:n.*1592G>T
ENST00000703540.1:c.1869G>T	ENSP00000515362.1:p.Lys623Asn
ENST00000703541.1:c.1734G>T	ENSP00000515363.1:p.Lys578Asn
ENST00000304992.11:c.1869G>T MANE Select	ENSP00000304350.6:p.Lys623Asn
ENST00000304992.10:c.1869G>T	ENSP00000304350.6:p.Lys623Asn
ENST00000572621.5:c.1869G>T	ENSP00000460348.1:p.Lys623Asn
ENST00000577001.1:c.1704G>T	ENSP00000458151.1:p.Lys568Asn
NM_006445.3:c.1869G>T	NP_006436.3:p.Lys623Asn
XM_024450537.1:c.1869G>T	XP_024306305.1:p.Lys623Asn
NM_006445.4:c.1869G>T MANE Select	NP_006436.3:p.Lys623Asn