Canonical Allele Identifier: CA466759032

Gene: PRPF4

Linked Data

• MyVariant Identifiers: chr9:g.116050506A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113288226A>T , CM000671.2:g.113288226A>T	GRCh38
NC_000009.11:g.116050506A>T , CM000671.1:g.116050506A>T	GRCh37
NC_000009.10:g.115090327A>T	NCBI36
NG_034225.1:g.17593A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.984A>T MANE Select	ENSP00000363313.4:p.Val328=
ENST00000374199.9:c.987A>T	ENSP00000363315.4:p.Val329=
ENST00000374198.4:c.987A>T	ENSP00000363313.3:p.Val329=
ENST00000374199.8:c.984A>T	ENSP00000363315.3:p.Val328=
NM_001244926.1:c.984A>T	NP_001231855.1:p.Val328=
NM_004697.4:c.987A>T	NP_004688.2:p.Val329=
XM_005252300.2:c.258A>T	XP_005252357.1:p.Val86=
XM_011519181.1:c.987A>T	XP_011517483.1:p.Val329=
NM_001322266.1:c.258A>T	NP_001309195.1:p.Val86=
NM_001322267.1:c.258A>T	NP_001309196.1:p.Val86=
NR_136265.1:n.1097A>T
NR_136266.1:n.1094A>T
NM_001244926.2:c.984A>T MANE Select	NP_001231855.1:p.Val328=
NM_001322266.2:c.258A>T	NP_001309195.1:p.Val86=
NM_001322267.2:c.258A>T	NP_001309196.1:p.Val86=
NM_004697.5:c.987A>T	NP_004688.2:p.Val329=
NR_136265.2:n.1073A>T
NR_136266.2:n.1070A>T