Canonical Allele Identifier: CA420682760

Gene: PRPF3

Linked Data

• MyVariant Identifiers: chr1:g.150318900G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346424G>A , CM000663.2:g.150346424G>A	GRCh38
NC_000001.10:g.150318900G>A , CM000663.1:g.150318900G>A	GRCh37
NC_000001.9:g.148585524G>A	NCBI36
NG_008245.1:g.29973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1776G>A MANE Select	ENSP00000315379.6:p.Lys592=
ENST00000324862.6:c.1776G>A	ENSP00000315379.6:p.Lys592=
ENST00000467329.5:n.2103G>A
ENST00000476970.1:n.885G>A
NM_004698.2:c.1776G>A	NP_004689.1:p.Lys592=
XM_011510128.1:c.1776G>A	XP_011508430.1:p.Lys592=
XM_011510129.1:c.1371G>A	XP_011508431.1:p.Lys457=
XM_011510130.1:c.1344G>A	XP_011508432.1:p.Lys448=
XR_241103.1:n.1759G>A
XR_921997.1:n.1759G>A
XR_921998.1:n.1873G>A
NM_001350529.1:c.1371G>A	NP_001337458.1:p.Lys457=
NM_004698.3:c.1776G>A	NP_004689.1:p.Lys592=
NR_146766.1:n.2007G>A
NR_146767.1:n.2103G>A
NR_146768.1:n.1949G>A
NR_146769.1:n.2002G>A
XM_011510130.3:c.1344G>A	XP_011508432.1:p.Lys448=
XM_017002790.1:c.1344G>A	XP_016858279.1:p.Lys448=
XR_001737536.2:n.1809G>A
XR_001737537.2:n.1923G>A
XR_001737540.2:n.2680G>A
XR_001737541.2:n.1703G>A
XR_002958009.1:n.2433G>A
XR_002958010.1:n.3669G>A
XR_002958012.1:n.1865G>A
XR_241103.3:n.1751G>A
XR_921997.3:n.1751G>A
XR_921998.3:n.1865G>A
NM_004698.4:c.1776G>A MANE Select	NP_004689.1:p.Lys592=