Canonical Allele Identifier: CA420682781

Gene: PRPF3

Linked Data

• MyVariant Identifiers: chr1:g.150318927G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346451G>T , CM000663.2:g.150346451G>T	GRCh38
NC_000001.10:g.150318927G>T , CM000663.1:g.150318927G>T	GRCh37
NC_000001.9:g.148585551G>T	NCBI36
NG_008245.1:g.30000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1803G>T MANE Select	ENSP00000315379.6:p.Arg601=
ENST00000324862.6:c.1803G>T	ENSP00000315379.6:p.Arg601=
ENST00000467329.5:n.2130G>T
ENST00000476970.1:n.912G>T
NM_004698.2:c.1803G>T	NP_004689.1:p.Arg601=
XM_011510128.1:c.1803G>T	XP_011508430.1:p.Arg601=
XM_011510129.1:c.1398G>T	XP_011508431.1:p.Arg466=
XM_011510130.1:c.1371G>T	XP_011508432.1:p.Arg457=
XR_241103.1:n.1786G>T
XR_921997.1:n.1786G>T
XR_921998.1:n.1900G>T
NM_001350529.1:c.1398G>T	NP_001337458.1:p.Arg466=
NM_004698.3:c.1803G>T	NP_004689.1:p.Arg601=
NR_146766.1:n.2034G>T
NR_146767.1:n.2130G>T
NR_146768.1:n.1976G>T
NR_146769.1:n.2029G>T
XM_011510130.3:c.1371G>T	XP_011508432.1:p.Arg457=
XM_017002790.1:c.1371G>T	XP_016858279.1:p.Arg457=
XR_001737536.2:n.1836G>T
XR_001737537.2:n.1950G>T
XR_001737540.2:n.2707G>T
XR_001737541.2:n.1730G>T
XR_002958009.1:n.2460G>T
XR_002958010.1:n.3696G>T
XR_002958012.1:n.1892G>T
XR_241103.3:n.1778G>T
XR_921997.3:n.1778G>T
XR_921998.3:n.1892G>T
NM_004698.4:c.1803G>T MANE Select	NP_004689.1:p.Arg601=