Canonical Allele Identifier: CA420682764

Gene: PRPF3

Linked Data

• MyVariant Identifiers: chr1:g.150318909G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346433G>A , CM000663.2:g.150346433G>A	GRCh38
NC_000001.10:g.150318909G>A , CM000663.1:g.150318909G>A	GRCh37
NC_000001.9:g.148585533G>A	NCBI36
NG_008245.1:g.29982G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1785G>A MANE Select	ENSP00000315379.6:p.Lys595=
ENST00000324862.6:c.1785G>A	ENSP00000315379.6:p.Lys595=
ENST00000467329.5:n.2112G>A
ENST00000476970.1:n.894G>A
NM_004698.2:c.1785G>A	NP_004689.1:p.Lys595=
XM_011510128.1:c.1785G>A	XP_011508430.1:p.Lys595=
XM_011510129.1:c.1380G>A	XP_011508431.1:p.Lys460=
XM_011510130.1:c.1353G>A	XP_011508432.1:p.Lys451=
XR_241103.1:n.1768G>A
XR_921997.1:n.1768G>A
XR_921998.1:n.1882G>A
NM_001350529.1:c.1380G>A	NP_001337458.1:p.Lys460=
NM_004698.3:c.1785G>A	NP_004689.1:p.Lys595=
NR_146766.1:n.2016G>A
NR_146767.1:n.2112G>A
NR_146768.1:n.1958G>A
NR_146769.1:n.2011G>A
XM_011510130.3:c.1353G>A	XP_011508432.1:p.Lys451=
XM_017002790.1:c.1353G>A	XP_016858279.1:p.Lys451=
XR_001737536.2:n.1818G>A
XR_001737537.2:n.1932G>A
XR_001737540.2:n.2689G>A
XR_001737541.2:n.1712G>A
XR_002958009.1:n.2442G>A
XR_002958010.1:n.3678G>A
XR_002958012.1:n.1874G>A
XR_241103.3:n.1760G>A
XR_921997.3:n.1760G>A
XR_921998.3:n.1874G>A
NM_004698.4:c.1785G>A MANE Select	NP_004689.1:p.Lys595=