Canonical Allele Identifier: CA342285499

Gene: PRPF3

Linked Data

• MyVariant Identifiers: chr1:g.150318936G>C (hg19) ; chr1:g.150346460G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346460G>C , CM000663.2:g.150346460G>C	GRCh38
NC_000001.10:g.150318936G>C , CM000663.1:g.150318936G>C	GRCh37
NC_000001.9:g.148585560G>C	NCBI36
NG_008245.1:g.30009G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1812G>C MANE Select	ENSP00000315379.6:p.Trp604Cys
ENST00000324862.6:c.1812G>C	ENSP00000315379.6:p.Trp604Cys
ENST00000467329.5:n.2139G>C
ENST00000476970.1:n.921G>C
NM_004698.2:c.1812G>C	NP_004689.1:p.Trp604Cys
XM_011510128.1:c.1812G>C	XP_011508430.1:p.Trp604Cys
XM_011510129.1:c.1407G>C	XP_011508431.1:p.Trp469Cys
XM_011510130.1:c.1380G>C	XP_011508432.1:p.Trp460Cys
XR_241103.1:n.1795G>C
XR_921997.1:n.1795G>C
XR_921998.1:n.1909G>C
NM_001350529.1:c.1407G>C	NP_001337458.1:p.Trp469Cys
NM_004698.3:c.1812G>C	NP_004689.1:p.Trp604Cys
NR_146766.1:n.2043G>C
NR_146767.1:n.2139G>C
NR_146768.1:n.1985G>C
NR_146769.1:n.2038G>C
XM_011510130.3:c.1380G>C	XP_011508432.1:p.Trp460Cys
XM_017002790.1:c.1380G>C	XP_016858279.1:p.Trp460Cys
XR_001737536.2:n.1845G>C
XR_001737537.2:n.1959G>C
XR_001737540.2:n.2716G>C
XR_001737541.2:n.1739G>C
XR_002958009.1:n.2469G>C
XR_002958010.1:n.3705G>C
XR_002958012.1:n.1901G>C
XR_241103.3:n.1787G>C
XR_921997.3:n.1787G>C
XR_921998.3:n.1901G>C
NM_004698.4:c.1812G>C MANE Select	NP_004689.1:p.Trp604Cys