Canonical Allele Identifier: CA526033808

Gene: PRPF3

Linked Data

• dbSNP Id: rs1553873044
• gnomAD v2: 1-150319187-C-T
• gnomAD v3: 1-150346711-C-T
• gnomAD v4: 1-150346711-C-T
• MyVariant Identifiers: chr1:g.150319187C>T (hg19) ; chr1:g.150346711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346711C>T , CM000663.2:g.150346711C>T	GRCh38
NC_000001.10:g.150319187C>T , CM000663.1:g.150319187C>T	GRCh37
NC_000001.9:g.148585811C>T	NCBI36
NG_008245.1:g.30260C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+220C>T MANE Select	ENSP00000315379.6:n.1843+220C>T
ENST00000324862.6:c.1843+220C>T	ENSP00000315379.6:n.1843+220C>T
ENST00000467329.5:n.2170+220C>T
ENST00000476970.1:n.952+220C>T
NM_004698.2:c.1843+220C>T	NP_004689.1:n.1843+220C>T
XM_011510128.1:c.1853+210C>T	XP_011508430.1:n.1853+210C>T
XM_011510129.1:c.1438+220C>T	XP_011508431.1:n.1438+220C>T
XM_011510130.1:c.1411+220C>T	XP_011508432.1:n.1411+220C>T
XR_241103.1:n.1826+220C>T
XR_921997.1:n.1836+210C>T
XR_921998.1:n.1940+220C>T
NM_001350529.1:c.1438+220C>T	NP_001337458.1:n.1438+220C>T
NM_004698.3:c.1843+220C>T	NP_004689.1:n.1843+220C>T
NR_146766.1:n.2074+220C>T
NR_146767.1:n.2170+220C>T
NR_146768.1:n.2026+210C>T
NR_146769.1:n.2079+210C>T
XM_011510130.3:c.1411+220C>T	XP_011508432.1:n.1411+220C>T
XM_017002790.1:c.1411+220C>T	XP_016858279.1:n.1411+220C>T
XR_001737536.2:n.1876+220C>T
XR_001737537.2:n.1990+220C>T
XR_001737540.2:n.2747+220C>T
XR_001737541.2:n.1770+220C>T
XR_002958009.1:n.2500+220C>T
XR_002958010.1:n.3746+210C>T
XR_002958012.1:n.1942+210C>T
XR_241103.3:n.1818+220C>T
XR_921997.3:n.1828+210C>T
XR_921998.3:n.1932+220C>T
NM_004698.4:c.1843+220C>T MANE Select	NP_004689.1:n.1843+220C>T