Canonical Allele Identifier: CA342284917

Gene: PRPF3

Linked Data

• ClinVar Variation Id: 1362502
• ClinVar RCV Id: RCV001900194
• dbSNP Id: rs1553872958
• gnomAD v2: 1-150318886-C-T
• gnomAD v4: 1-150346410-C-T
• COSMIC: COSM5502308
• MyVariant Identifiers: chr1:g.150318886C>T (hg19) ; chr1:g.150346410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346410C>T , CM000663.2:g.150346410C>T	GRCh38
NC_000001.10:g.150318886C>T , CM000663.1:g.150318886C>T	GRCh37
NC_000001.9:g.148585510C>T	NCBI36
NG_008245.1:g.29959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1762C>T MANE Select	ENSP00000315379.6:p.Pro588Ser
ENST00000324862.6:c.1762C>T	ENSP00000315379.6:p.Pro588Ser
ENST00000467329.5:n.2089C>T
ENST00000476970.1:n.871C>T
NM_004698.2:c.1762C>T	NP_004689.1:p.Pro588Ser
XM_011510128.1:c.1762C>T	XP_011508430.1:p.Pro588Ser
XM_011510129.1:c.1357C>T	XP_011508431.1:p.Pro453Ser
XM_011510130.1:c.1330C>T	XP_011508432.1:p.Pro444Ser
XR_241103.1:n.1745C>T
XR_921997.1:n.1745C>T
XR_921998.1:n.1859C>T
NM_001350529.1:c.1357C>T	NP_001337458.1:p.Pro453Ser
NM_004698.3:c.1762C>T	NP_004689.1:p.Pro588Ser
NR_146766.1:n.1993C>T
NR_146767.1:n.2089C>T
NR_146768.1:n.1935C>T
NR_146769.1:n.1988C>T
XM_011510130.3:c.1330C>T	XP_011508432.1:p.Pro444Ser
XM_017002790.1:c.1330C>T	XP_016858279.1:p.Pro444Ser
XR_001737536.2:n.1795C>T
XR_001737537.2:n.1909C>T
XR_001737540.2:n.2666C>T
XR_001737541.2:n.1689C>T
XR_002958009.1:n.2419C>T
XR_002958010.1:n.3655C>T
XR_002958012.1:n.1851C>T
XR_241103.3:n.1737C>T
XR_921997.3:n.1737C>T
XR_921998.3:n.1851C>T
NM_004698.4:c.1762C>T MANE Select	NP_004689.1:p.Pro588Ser