Canonical Allele Identifier: CA420686089

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150338166C>T , CM000663.2:g.150338166C>T	GRCh38
NC_000001.10:g.150310642C>T , CM000663.1:g.150310642C>T	GRCh37
NC_000001.9:g.148577266C>T	NCBI36
NG_008245.1:g.21715C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004698.4:c.1042C>T MANE Select	NP_004689.1:p.Leu348=
ENST00000324862.7:c.1042C>T MANE Select	ENSP00000315379.6:p.Leu348=
NM_001350529.1:c.637C>T	NP_001337458.1:p.Leu213=
NM_004698.2:c.1042C>T	NP_004689.1:p.Leu348=
NM_004698.3:c.1042C>T	NP_004689.1:p.Leu348=
NR_146766.1:n.1215C>T
NR_146767.1:n.1311C>T
NR_146768.1:n.1215C>T
NR_146769.1:n.1215C>T
ENST00000324862.6:c.1042C>T	ENSP00000315379.6:p.Leu348=
ENST00000467329.5:n.1311C>T
XM_011510128.1:c.1042C>T	XP_011508430.1:p.Leu348=
XM_011510129.1:c.637C>T	XP_011508431.1:p.Leu213=
XM_011510130.1:c.610C>T	XP_011508432.1:p.Leu204=
XM_011510130.3:c.610C>T	XP_011508432.1:p.Leu204=
XM_011510131.1:c.1042C>T	XP_011508433.1:p.Leu348=
XM_011510131.3:c.1042C>T	XP_011508433.1:p.Leu348=
XM_011510132.1:c.1042C>T	XP_011508434.1:p.Leu348=
XM_011510132.3:c.1042C>T	XP_011508434.1:p.Leu348=
XM_017002790.1:c.610C>T	XP_016858279.1:p.Leu204=
XM_017002791.2:c.1036-2232C>T	XP_016858280.1:n.1036-2232C>T
XR_001737536.2:n.1136C>T
XR_001737537.2:n.1136C>T
XR_001737540.2:n.1888C>T
XR_001737541.2:n.1130-2232C>T
XR_002958009.1:n.1641C>T
XR_002958010.1:n.1136C>T
XR_002958012.1:n.1136C>T
XR_241103.1:n.1144C>T
XR_241103.3:n.1136C>T
XR_241104.1:n.1144C>T
XR_921997.1:n.1144C>T
XR_921997.3:n.1136C>T
XR_921998.1:n.1144C>T
XR_921998.3:n.1136C>T