Canonical Allele Identifier: CA342285304

Gene: PRPF3

Linked Data

• dbSNP Id: rs1168588697
• gnomAD v2: 1-150318920-T-A
• gnomAD v3: 1-150346444-T-A
• gnomAD v4: 1-150346444-T-A
• MyVariant Identifiers: chr1:g.150318920T>A (hg19) ; chr1:g.150346444T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346444T>A , CM000663.2:g.150346444T>A	GRCh38
NC_000001.10:g.150318920T>A , CM000663.1:g.150318920T>A	GRCh37
NC_000001.9:g.148585544T>A	NCBI36
NG_008245.1:g.29993T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1796T>A MANE Select	ENSP00000315379.6:p.Leu599Gln
ENST00000324862.6:c.1796T>A	ENSP00000315379.6:p.Leu599Gln
ENST00000467329.5:n.2123T>A
ENST00000476970.1:n.905T>A
NM_004698.2:c.1796T>A	NP_004689.1:p.Leu599Gln
XM_011510128.1:c.1796T>A	XP_011508430.1:p.Leu599Gln
XM_011510129.1:c.1391T>A	XP_011508431.1:p.Leu464Gln
XM_011510130.1:c.1364T>A	XP_011508432.1:p.Leu455Gln
XR_241103.1:n.1779T>A
XR_921997.1:n.1779T>A
XR_921998.1:n.1893T>A
NM_001350529.1:c.1391T>A	NP_001337458.1:p.Leu464Gln
NM_004698.3:c.1796T>A	NP_004689.1:p.Leu599Gln
NR_146766.1:n.2027T>A
NR_146767.1:n.2123T>A
NR_146768.1:n.1969T>A
NR_146769.1:n.2022T>A
XM_011510130.3:c.1364T>A	XP_011508432.1:p.Leu455Gln
XM_017002790.1:c.1364T>A	XP_016858279.1:p.Leu455Gln
XR_001737536.2:n.1829T>A
XR_001737537.2:n.1943T>A
XR_001737540.2:n.2700T>A
XR_001737541.2:n.1723T>A
XR_002958009.1:n.2453T>A
XR_002958010.1:n.3689T>A
XR_002958012.1:n.1885T>A
XR_241103.3:n.1771T>A
XR_921997.3:n.1771T>A
XR_921998.3:n.1885T>A
NM_004698.4:c.1796T>A MANE Select	NP_004689.1:p.Leu599Gln