Canonical Allele Identifier: CA497389328

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1651310-G-A
• MyVariant Identifiers: chr17:g.1554604G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651310G>A , CM000679.2:g.1651310G>A	GRCh38
NC_000017.10:g.1554604G>A , CM000679.1:g.1554604G>A	GRCh37
NC_000017.9:g.1501354G>A	NCBI36
NG_009118.1:g.38573C>T
NG_033061.1:g.3789C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6471C>T	ENSP00000460849.2:p.Ser2157=
ENST00000703537.1:c.2399C>T
ENST00000703538.1:c.*6374C>T	ENSP00000515361.1:n.*6374C>T
ENST00000703539.1:n.2965C>T
ENST00000703540.1:c.6504C>T	ENSP00000515362.1:p.Ser2168=
ENST00000703541.1:c.6516C>T	ENSP00000515363.1:p.Ser2172=
ENST00000304992.11:c.6651C>T MANE Select	ENSP00000304350.6:p.Ser2217=
ENST00000304992.10:c.6651C>T	ENSP00000304350.6:p.Ser2217=
ENST00000572621.5:c.6651C>T	ENSP00000460348.1:p.Ser2217=
ENST00000572723.1:n.640C>T
NM_006445.3:c.6651C>T	NP_006436.3:p.Ser2217=
XM_024450537.1:c.6651C>T	XP_024306305.1:p.Ser2217=
NM_006445.4:c.6651C>T MANE Select	NP_006436.3:p.Ser2217=