Canonical Allele Identifier: CA526033802

Gene: PRPF3

Linked Data

• dbSNP Id: rs1553873033
• gnomAD v2: 1-150319118-T-C
• gnomAD v3: 1-150346642-T-C
• gnomAD v4: 1-150346642-T-C
• MyVariant Identifiers: chr1:g.150319118T>C (hg19) ; chr1:g.150346642T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346642T>C , CM000663.2:g.150346642T>C	GRCh38
NC_000001.10:g.150319118T>C , CM000663.1:g.150319118T>C	GRCh37
NC_000001.9:g.148585742T>C	NCBI36
NG_008245.1:g.30191T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+151T>C MANE Select	ENSP00000315379.6:n.1843+151T>C
ENST00000324862.6:c.1843+151T>C	ENSP00000315379.6:n.1843+151T>C
ENST00000467329.5:n.2170+151T>C
ENST00000476970.1:n.952+151T>C
NM_004698.2:c.1843+151T>C	NP_004689.1:n.1843+151T>C
XM_011510128.1:c.1853+141T>C	XP_011508430.1:n.1853+141T>C
XM_011510129.1:c.1438+151T>C	XP_011508431.1:n.1438+151T>C
XM_011510130.1:c.1411+151T>C	XP_011508432.1:n.1411+151T>C
XR_241103.1:n.1826+151T>C
XR_921997.1:n.1836+141T>C
XR_921998.1:n.1940+151T>C
NM_001350529.1:c.1438+151T>C	NP_001337458.1:n.1438+151T>C
NM_004698.3:c.1843+151T>C	NP_004689.1:n.1843+151T>C
NR_146766.1:n.2074+151T>C
NR_146767.1:n.2170+151T>C
NR_146768.1:n.2026+141T>C
NR_146769.1:n.2079+141T>C
XM_011510130.3:c.1411+151T>C	XP_011508432.1:n.1411+151T>C
XM_017002790.1:c.1411+151T>C	XP_016858279.1:n.1411+151T>C
XR_001737536.2:n.1876+151T>C
XR_001737537.2:n.1990+151T>C
XR_001737540.2:n.2747+151T>C
XR_001737541.2:n.1770+151T>C
XR_002958009.1:n.2500+151T>C
XR_002958010.1:n.3746+141T>C
XR_002958012.1:n.1942+141T>C
XR_241103.3:n.1818+151T>C
XR_921997.3:n.1828+141T>C
XR_921998.3:n.1932+151T>C
NM_004698.4:c.1843+151T>C MANE Select	NP_004689.1:n.1843+151T>C