Canonical Allele Identifier: CA30028275

Gene: PRPF3

Linked Data

• dbSNP Id: rs1000767465
• MyVariant Identifiers: chr1:g.150346562C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346562C>T , CM000663.2:g.150346562C>T	GRCh38
NC_000001.10:g.150319038C>T , CM000663.1:g.150319038C>T	GRCh37
NC_000001.9:g.148585662C>T	NCBI36
NG_008245.1:g.30111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+71C>T MANE Select	ENSP00000315379.6:n.1843+71C>T
ENST00000324862.6:c.1843+71C>T	ENSP00000315379.6:n.1843+71C>T
ENST00000467329.5:n.2170+71C>T
ENST00000476970.1:n.952+71C>T
NM_004698.2:c.1843+71C>T	NP_004689.1:n.1843+71C>T
XM_011510128.1:c.1853+61C>T	XP_011508430.1:n.1853+61C>T
XM_011510129.1:c.1438+71C>T	XP_011508431.1:n.1438+71C>T
XM_011510130.1:c.1411+71C>T	XP_011508432.1:n.1411+71C>T
XR_241103.1:n.1826+71C>T
XR_921997.1:n.1836+61C>T
XR_921998.1:n.1940+71C>T
NM_001350529.1:c.1438+71C>T	NP_001337458.1:n.1438+71C>T
NM_004698.3:c.1843+71C>T	NP_004689.1:n.1843+71C>T
NR_146766.1:n.2074+71C>T
NR_146767.1:n.2170+71C>T
NR_146768.1:n.2026+61C>T
NR_146769.1:n.2079+61C>T
XM_011510130.3:c.1411+71C>T	XP_011508432.1:n.1411+71C>T
XM_017002790.1:c.1411+71C>T	XP_016858279.1:n.1411+71C>T
XR_001737536.2:n.1876+71C>T
XR_001737537.2:n.1990+71C>T
XR_001737540.2:n.2747+71C>T
XR_001737541.2:n.1770+71C>T
XR_002958009.1:n.2500+71C>T
XR_002958010.1:n.3746+61C>T
XR_002958012.1:n.1942+61C>T
XR_241103.3:n.1818+71C>T
XR_921997.3:n.1828+61C>T
XR_921998.3:n.1932+71C>T
NM_004698.4:c.1843+71C>T MANE Select	NP_004689.1:n.1843+71C>T