Canonical Allele Identifier: CA342285143

Gene: PRPF3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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