Canonical Allele Identifier: CA1075610

Gene: PRPF3

Linked Data

• ClinVar Variation Id: 292500
• ClinVar RCV Id: RCV000371930 ; RCV002059324
• dbSNP Id: rs782312050
• ExAC: 1:150315819 T / C
• gnomAD v2: 1-150315819-T-C
• gnomAD v3: 1-150343343-T-C
• gnomAD v4: 1-150343343-T-C
• MyVariant Identifiers: chr1:g.150315819T>C (hg19) ; chr1:g.150343343T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150343343T>C , CM000663.2:g.150343343T>C	GRCh38
NC_000001.10:g.150315819T>C , CM000663.1:g.150315819T>C	GRCh37
NC_000001.9:g.148582443T>C	NCBI36
NG_008245.1:g.26892T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1317T>C MANE Select	ENSP00000315379.6:p.Tyr439=
ENST00000324862.6:c.1317T>C	ENSP00000315379.6:p.Tyr439=
ENST00000467329.5:n.1586T>C
ENST00000493553.1:n.193T>C
NM_004698.2:c.1317T>C	NP_004689.1:p.Tyr439=
XM_011510128.1:c.1317T>C	XP_011508430.1:p.Tyr439=
XM_011510129.1:c.912T>C	XP_011508431.1:p.Tyr304=
XM_011510130.1:c.885T>C	XP_011508432.1:p.Tyr295=
XR_241103.1:n.1419T>C
XR_241104.1:n.1419T>C
XR_921997.1:n.1419T>C
XR_921998.1:n.1414T>C
NM_001350529.1:c.912T>C	NP_001337458.1:p.Tyr304=
NM_004698.3:c.1317T>C	NP_004689.1:p.Tyr439=
NR_146766.1:n.1490T>C
NR_146767.1:n.1586T>C
NR_146768.1:n.1490T>C
NR_146769.1:n.1485T>C
XM_011510130.3:c.885T>C	XP_011508432.1:p.Tyr295=
XM_017002790.1:c.885T>C	XP_016858279.1:p.Tyr295=
XR_001737536.2:n.1411T>C
XR_001737537.2:n.1406T>C
XR_001737540.2:n.2163T>C
XR_001737541.2:n.1244T>C
XR_002958009.1:n.1916T>C
XR_002958010.1:n.1411T>C
XR_002958012.1:n.1406T>C
XR_241103.3:n.1411T>C
XR_921997.3:n.1411T>C
XR_921998.3:n.1406T>C
NM_004698.4:c.1317T>C MANE Select	NP_004689.1:p.Tyr439=