Canonical Allele Identifier: CA374554776

Gene: PRPF4

Linked Data

• MyVariant Identifiers: chr9:g.116050489G>C (hg19) ; chr9:g.113288209G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113288209G>C , CM000671.2:g.113288209G>C	GRCh38
NC_000009.11:g.116050489G>C , CM000671.1:g.116050489G>C	GRCh37
NC_000009.10:g.115090310G>C	NCBI36
NG_034225.1:g.17576G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.967G>C MANE Select	ENSP00000363313.4:p.Val323Leu
ENST00000374199.9:c.970G>C	ENSP00000363315.4:p.Val324Leu
ENST00000374198.4:c.970G>C	ENSP00000363313.3:p.Val324Leu
ENST00000374199.8:c.967G>C	ENSP00000363315.3:p.Val323Leu
NM_001244926.1:c.967G>C	NP_001231855.1:p.Val323Leu
NM_004697.4:c.970G>C	NP_004688.2:p.Val324Leu
XM_005252300.2:c.241G>C	XP_005252357.1:p.Val81Leu
XM_011519181.1:c.970G>C	XP_011517483.1:p.Val324Leu
NM_001322266.1:c.241G>C	NP_001309195.1:p.Val81Leu
NM_001322267.1:c.241G>C	NP_001309196.1:p.Val81Leu
NR_136265.1:n.1080G>C
NR_136266.1:n.1077G>C
NM_001244926.2:c.967G>C MANE Select	NP_001231855.1:p.Val323Leu
NM_001322266.2:c.241G>C	NP_001309195.1:p.Val81Leu
NM_001322267.2:c.241G>C	NP_001309196.1:p.Val81Leu
NM_004697.5:c.970G>C	NP_004688.2:p.Val324Leu
NR_136265.2:n.1056G>C
NR_136266.2:n.1053G>C