Canonical Allele Identifier: CA342285103

Gene: PRPF3

Linked Data

• MyVariant Identifiers: chr1:g.150318903A>C (hg19) ; chr1:g.150346427A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346427A>C , CM000663.2:g.150346427A>C	GRCh38
NC_000001.10:g.150318903A>C , CM000663.1:g.150318903A>C	GRCh37
NC_000001.9:g.148585527A>C	NCBI36
NG_008245.1:g.29976A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1779A>C MANE Select	ENSP00000315379.6:p.Lys593Asn
ENST00000324862.6:c.1779A>C	ENSP00000315379.6:p.Lys593Asn
ENST00000467329.5:n.2106A>C
ENST00000476970.1:n.888A>C
NM_004698.2:c.1779A>C	NP_004689.1:p.Lys593Asn
XM_011510128.1:c.1779A>C	XP_011508430.1:p.Lys593Asn
XM_011510129.1:c.1374A>C	XP_011508431.1:p.Lys458Asn
XM_011510130.1:c.1347A>C	XP_011508432.1:p.Lys449Asn
XR_241103.1:n.1762A>C
XR_921997.1:n.1762A>C
XR_921998.1:n.1876A>C
NM_001350529.1:c.1374A>C	NP_001337458.1:p.Lys458Asn
NM_004698.3:c.1779A>C	NP_004689.1:p.Lys593Asn
NR_146766.1:n.2010A>C
NR_146767.1:n.2106A>C
NR_146768.1:n.1952A>C
NR_146769.1:n.2005A>C
XM_011510130.3:c.1347A>C	XP_011508432.1:p.Lys449Asn
XM_017002790.1:c.1347A>C	XP_016858279.1:p.Lys449Asn
XR_001737536.2:n.1812A>C
XR_001737537.2:n.1926A>C
XR_001737540.2:n.2683A>C
XR_001737541.2:n.1706A>C
XR_002958009.1:n.2436A>C
XR_002958010.1:n.3672A>C
XR_002958012.1:n.1868A>C
XR_241103.3:n.1754A>C
XR_921997.3:n.1754A>C
XR_921998.3:n.1868A>C
NM_004698.4:c.1779A>C MANE Select	NP_004689.1:p.Lys593Asn