Canonical Allele Identifier: CA374554858

Gene: PRPF4

Linked Data

• MyVariant Identifiers: chr9:g.116050529T>C (hg19) ; chr9:g.113288249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113288249T>C , CM000671.2:g.113288249T>C	GRCh38
NC_000009.11:g.116050529T>C , CM000671.1:g.116050529T>C	GRCh37
NC_000009.10:g.115090350T>C	NCBI36
NG_034225.1:g.17616T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.1007T>C MANE Select	ENSP00000363313.4:p.Phe336Ser
ENST00000374199.9:c.1010T>C	ENSP00000363315.4:p.Phe337Ser
ENST00000374198.4:c.1010T>C	ENSP00000363313.3:p.Phe337Ser
ENST00000374199.8:c.1007T>C	ENSP00000363315.3:p.Phe336Ser
NM_001244926.1:c.1007T>C	NP_001231855.1:p.Phe336Ser
NM_004697.4:c.1010T>C	NP_004688.2:p.Phe337Ser
XM_005252300.2:c.281T>C	XP_005252357.1:p.Phe94Ser
XM_011519181.1:c.1010T>C	XP_011517483.1:p.Phe337Ser
NM_001322266.1:c.281T>C	NP_001309195.1:p.Phe94Ser
NM_001322267.1:c.281T>C	NP_001309196.1:p.Phe94Ser
NR_136265.1:n.1120T>C
NR_136266.1:n.1117T>C
NM_001244926.2:c.1007T>C MANE Select	NP_001231855.1:p.Phe336Ser
NM_001322266.2:c.281T>C	NP_001309195.1:p.Phe94Ser
NM_001322267.2:c.281T>C	NP_001309196.1:p.Phe94Ser
NM_004697.5:c.1010T>C	NP_004688.2:p.Phe337Ser
NR_136265.2:n.1096T>C
NR_136266.2:n.1093T>C