Canonical Allele Identifier: CA374554856

Gene: PRPF4

Linked Data

• MyVariant Identifiers: chr9:g.116050528T>G (hg19) ; chr9:g.113288248T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113288248T>G , CM000671.2:g.113288248T>G	GRCh38
NC_000009.11:g.116050528T>G , CM000671.1:g.116050528T>G	GRCh37
NC_000009.10:g.115090349T>G	NCBI36
NG_034225.1:g.17615T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.1006T>G MANE Select	ENSP00000363313.4:p.Phe336Val
ENST00000374199.9:c.1009T>G	ENSP00000363315.4:p.Phe337Val
ENST00000374198.4:c.1009T>G	ENSP00000363313.3:p.Phe337Val
ENST00000374199.8:c.1006T>G	ENSP00000363315.3:p.Phe336Val
NM_001244926.1:c.1006T>G	NP_001231855.1:p.Phe336Val
NM_004697.4:c.1009T>G	NP_004688.2:p.Phe337Val
XM_005252300.2:c.280T>G	XP_005252357.1:p.Phe94Val
XM_011519181.1:c.1009T>G	XP_011517483.1:p.Phe337Val
NM_001322266.1:c.280T>G	NP_001309195.1:p.Phe94Val
NM_001322267.1:c.280T>G	NP_001309196.1:p.Phe94Val
NR_136265.1:n.1119T>G
NR_136266.1:n.1116T>G
NM_001244926.2:c.1006T>G MANE Select	NP_001231855.1:p.Phe336Val
NM_001322266.2:c.280T>G	NP_001309195.1:p.Phe94Val
NM_001322267.2:c.280T>G	NP_001309196.1:p.Phe94Val
NM_004697.5:c.1009T>G	NP_004688.2:p.Phe337Val
NR_136265.2:n.1095T>G
NR_136266.2:n.1092T>G