Canonical Allele Identifier: CA342285834

Gene: PRPF3

Linked Data

• MyVariant Identifiers: chr1:g.150318958A>C (hg19) ; chr1:g.150346482A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346482A>C , CM000663.2:g.150346482A>C	GRCh38
NC_000001.10:g.150318958A>C , CM000663.1:g.150318958A>C	GRCh37
NC_000001.9:g.148585582A>C	NCBI36
NG_008245.1:g.30031A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1834A>C MANE Select	ENSP00000315379.6:p.Lys612Gln
ENST00000324862.6:c.1834A>C	ENSP00000315379.6:p.Lys612Gln
ENST00000467329.5:n.2161A>C
ENST00000476970.1:n.943A>C
NM_004698.2:c.1834A>C	NP_004689.1:p.Lys612Gln
XM_011510128.1:c.1834A>C	XP_011508430.1:p.Lys612Gln
XM_011510129.1:c.1429A>C	XP_011508431.1:p.Lys477Gln
XM_011510130.1:c.1402A>C	XP_011508432.1:p.Lys468Gln
XR_241103.1:n.1817A>C
XR_921997.1:n.1817A>C
XR_921998.1:n.1931A>C
NM_001350529.1:c.1429A>C	NP_001337458.1:p.Lys477Gln
NM_004698.3:c.1834A>C	NP_004689.1:p.Lys612Gln
NR_146766.1:n.2065A>C
NR_146767.1:n.2161A>C
NR_146768.1:n.2007A>C
NR_146769.1:n.2060A>C
XM_011510130.3:c.1402A>C	XP_011508432.1:p.Lys468Gln
XM_017002790.1:c.1402A>C	XP_016858279.1:p.Lys468Gln
XR_001737536.2:n.1867A>C
XR_001737537.2:n.1981A>C
XR_001737540.2:n.2738A>C
XR_001737541.2:n.1761A>C
XR_002958009.1:n.2491A>C
XR_002958010.1:n.3727A>C
XR_002958012.1:n.1923A>C
XR_241103.3:n.1809A>C
XR_921997.3:n.1809A>C
XR_921998.3:n.1923A>C
NM_004698.4:c.1834A>C MANE Select	NP_004689.1:p.Lys612Gln