Canonical Allele Identifier: CA497388900

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554496A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651202A>C , CM000679.2:g.1651202A>C	GRCh38
NC_000017.10:g.1554496A>C , CM000679.1:g.1554496A>C	GRCh37
NC_000017.9:g.1501246A>C	NCBI36
NG_009118.1:g.38681T>G
NG_033061.1:g.3897T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6579T>G	ENSP00000460849.2:p.Pro2193=
ENST00000703537.1:c.2507T>G
ENST00000703538.1:c.*6482T>G	ENSP00000515361.1:n.*6482T>G
ENST00000703539.1:n.3073T>G
ENST00000703540.1:c.6612T>G	ENSP00000515362.1:p.Pro2204=
ENST00000703541.1:c.6624T>G	ENSP00000515363.1:p.Pro2208=
ENST00000304992.11:c.6759T>G MANE Select	ENSP00000304350.6:p.Pro2253=
ENST00000304992.10:c.6759T>G	ENSP00000304350.6:p.Pro2253=
ENST00000571958.1:c.68T>G
ENST00000572621.5:c.6759T>G	ENSP00000460348.1:p.Pro2253=
ENST00000572723.1:n.748T>G
NM_006445.3:c.6759T>G	NP_006436.3:p.Pro2253=
XM_024450537.1:c.6759T>G	XP_024306305.1:p.Pro2253=
NM_006445.4:c.6759T>G MANE Select	NP_006436.3:p.Pro2253=