Canonical Allele Identifier: CA342285072

Gene: PRPF3

Linked Data

• MyVariant Identifiers: chr1:g.150318901A>C (hg19) ; chr1:g.150346425A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346425A>C , CM000663.2:g.150346425A>C	GRCh38
NC_000001.10:g.150318901A>C , CM000663.1:g.150318901A>C	GRCh37
NC_000001.9:g.148585525A>C	NCBI36
NG_008245.1:g.29974A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1777A>C MANE Select	ENSP00000315379.6:p.Lys593Gln
ENST00000324862.6:c.1777A>C	ENSP00000315379.6:p.Lys593Gln
ENST00000467329.5:n.2104A>C
ENST00000476970.1:n.886A>C
NM_004698.2:c.1777A>C	NP_004689.1:p.Lys593Gln
XM_011510128.1:c.1777A>C	XP_011508430.1:p.Lys593Gln
XM_011510129.1:c.1372A>C	XP_011508431.1:p.Lys458Gln
XM_011510130.1:c.1345A>C	XP_011508432.1:p.Lys449Gln
XR_241103.1:n.1760A>C
XR_921997.1:n.1760A>C
XR_921998.1:n.1874A>C
NM_001350529.1:c.1372A>C	NP_001337458.1:p.Lys458Gln
NM_004698.3:c.1777A>C	NP_004689.1:p.Lys593Gln
NR_146766.1:n.2008A>C
NR_146767.1:n.2104A>C
NR_146768.1:n.1950A>C
NR_146769.1:n.2003A>C
XM_011510130.3:c.1345A>C	XP_011508432.1:p.Lys449Gln
XM_017002790.1:c.1345A>C	XP_016858279.1:p.Lys449Gln
XR_001737536.2:n.1810A>C
XR_001737537.2:n.1924A>C
XR_001737540.2:n.2681A>C
XR_001737541.2:n.1704A>C
XR_002958009.1:n.2434A>C
XR_002958010.1:n.3670A>C
XR_002958012.1:n.1866A>C
XR_241103.3:n.1752A>C
XR_921997.3:n.1752A>C
XR_921998.3:n.1866A>C
NM_004698.4:c.1777A>C MANE Select	NP_004689.1:p.Lys593Gln