Canonical Allele Identifier: CA342285144

Gene: PRPF3

Linked Data

• COSMIC: COSM1333792
• MyVariant Identifiers: chr1:g.150318906T>G (hg19) ; chr1:g.150346430T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346430T>G , CM000663.2:g.150346430T>G	GRCh38
NC_000001.10:g.150318906T>G , CM000663.1:g.150318906T>G	GRCh37
NC_000001.9:g.148585530T>G	NCBI36
NG_008245.1:g.29979T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1782T>G MANE Select	ENSP00000315379.6:p.Phe594Leu
ENST00000324862.6:c.1782T>G	ENSP00000315379.6:p.Phe594Leu
ENST00000467329.5:n.2109T>G
ENST00000476970.1:n.891T>G
NM_004698.2:c.1782T>G	NP_004689.1:p.Phe594Leu
XM_011510128.1:c.1782T>G	XP_011508430.1:p.Phe594Leu
XM_011510129.1:c.1377T>G	XP_011508431.1:p.Phe459Leu
XM_011510130.1:c.1350T>G	XP_011508432.1:p.Phe450Leu
XR_241103.1:n.1765T>G
XR_921997.1:n.1765T>G
XR_921998.1:n.1879T>G
NM_001350529.1:c.1377T>G	NP_001337458.1:p.Phe459Leu
NM_004698.3:c.1782T>G	NP_004689.1:p.Phe594Leu
NR_146766.1:n.2013T>G
NR_146767.1:n.2109T>G
NR_146768.1:n.1955T>G
NR_146769.1:n.2008T>G
XM_011510130.3:c.1350T>G	XP_011508432.1:p.Phe450Leu
XM_017002790.1:c.1350T>G	XP_016858279.1:p.Phe450Leu
XR_001737536.2:n.1815T>G
XR_001737537.2:n.1929T>G
XR_001737540.2:n.2686T>G
XR_001737541.2:n.1709T>G
XR_002958009.1:n.2439T>G
XR_002958010.1:n.3675T>G
XR_002958012.1:n.1871T>G
XR_241103.3:n.1757T>G
XR_921997.3:n.1757T>G
XR_921998.3:n.1871T>G
NM_004698.4:c.1782T>G MANE Select	NP_004689.1:p.Phe594Leu