Canonical Allele Identifier: CA374554833

Gene: PRPF4

Linked Data

• MyVariant Identifiers: chr9:g.116050516C>T (hg19) ; chr9:g.113288236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113288236C>T , CM000671.2:g.113288236C>T	GRCh38
NC_000009.11:g.116050516C>T , CM000671.1:g.116050516C>T	GRCh37
NC_000009.10:g.115090337C>T	NCBI36
NG_034225.1:g.17603C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.994C>T MANE Select	ENSP00000363313.4:p.Pro332Ser
ENST00000374199.9:c.997C>T	ENSP00000363315.4:p.Pro333Ser
ENST00000374198.4:c.997C>T	ENSP00000363313.3:p.Pro333Ser
ENST00000374199.8:c.994C>T	ENSP00000363315.3:p.Pro332Ser
NM_001244926.1:c.994C>T	NP_001231855.1:p.Pro332Ser
NM_004697.4:c.997C>T	NP_004688.2:p.Pro333Ser
XM_005252300.2:c.268C>T	XP_005252357.1:p.Pro90Ser
XM_011519181.1:c.997C>T	XP_011517483.1:p.Pro333Ser
NM_001322266.1:c.268C>T	NP_001309195.1:p.Pro90Ser
NM_001322267.1:c.268C>T	NP_001309196.1:p.Pro90Ser
NR_136265.1:n.1107C>T
NR_136266.1:n.1104C>T
NM_001244926.2:c.994C>T MANE Select	NP_001231855.1:p.Pro332Ser
NM_001322266.2:c.268C>T	NP_001309195.1:p.Pro90Ser
NM_001322267.2:c.268C>T	NP_001309196.1:p.Pro90Ser
NM_004697.5:c.997C>T	NP_004688.2:p.Pro333Ser
NR_136265.2:n.1083C>T
NR_136266.2:n.1080C>T