Canonical Allele Identifier: CA497388937

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 2105481
• ClinVar RCV Id: RCV003023473
• MyVariant Identifiers: chr17:g.1554565C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651271C>T , CM000679.2:g.1651271C>T	GRCh38
NC_000017.10:g.1554565C>T , CM000679.1:g.1554565C>T	GRCh37
NC_000017.9:g.1501315C>T	NCBI36
NG_009118.1:g.38612G>A
NG_033061.1:g.3828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6510G>A	ENSP00000460849.2:p.Leu2170=
ENST00000703537.1:c.2438G>A
ENST00000703538.1:c.*6413G>A	ENSP00000515361.1:n.*6413G>A
ENST00000703539.1:n.3004G>A
ENST00000703540.1:c.6543G>A	ENSP00000515362.1:p.Leu2181=
ENST00000703541.1:c.6555G>A	ENSP00000515363.1:p.Leu2185=
ENST00000304992.11:c.6690G>A MANE Select	ENSP00000304350.6:p.Leu2230=
ENST00000304992.10:c.6690G>A	ENSP00000304350.6:p.Leu2230=
ENST00000572621.5:c.6690G>A	ENSP00000460348.1:p.Leu2230=
ENST00000572723.1:n.679G>A
NM_006445.3:c.6690G>A	NP_006436.3:p.Leu2230=
XM_024450537.1:c.6690G>A	XP_024306305.1:p.Leu2230=
NM_006445.4:c.6690G>A MANE Select	NP_006436.3:p.Leu2230=