Canonical Allele Identifier: CA342285649

Gene: PRPF3

Linked Data

• gnomAD v4: 1-150346471-C-T
• MyVariant Identifiers: chr1:g.150318947C>T (hg19) ; chr1:g.150346471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346471C>T , CM000663.2:g.150346471C>T	GRCh38
NC_000001.10:g.150318947C>T , CM000663.1:g.150318947C>T	GRCh37
NC_000001.9:g.148585571C>T	NCBI36
NG_008245.1:g.30020C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1823C>T MANE Select	ENSP00000315379.6:p.Thr608Ile
ENST00000324862.6:c.1823C>T	ENSP00000315379.6:p.Thr608Ile
ENST00000467329.5:n.2150C>T
ENST00000476970.1:n.932C>T
NM_004698.2:c.1823C>T	NP_004689.1:p.Thr608Ile
XM_011510128.1:c.1823C>T	XP_011508430.1:p.Thr608Ile
XM_011510129.1:c.1418C>T	XP_011508431.1:p.Thr473Ile
XM_011510130.1:c.1391C>T	XP_011508432.1:p.Thr464Ile
XR_241103.1:n.1806C>T
XR_921997.1:n.1806C>T
XR_921998.1:n.1920C>T
NM_001350529.1:c.1418C>T	NP_001337458.1:p.Thr473Ile
NM_004698.3:c.1823C>T	NP_004689.1:p.Thr608Ile
NR_146766.1:n.2054C>T
NR_146767.1:n.2150C>T
NR_146768.1:n.1996C>T
NR_146769.1:n.2049C>T
XM_011510130.3:c.1391C>T	XP_011508432.1:p.Thr464Ile
XM_017002790.1:c.1391C>T	XP_016858279.1:p.Thr464Ile
XR_001737536.2:n.1856C>T
XR_001737537.2:n.1970C>T
XR_001737540.2:n.2727C>T
XR_001737541.2:n.1750C>T
XR_002958009.1:n.2480C>T
XR_002958010.1:n.3716C>T
XR_002958012.1:n.1912C>T
XR_241103.3:n.1798C>T
XR_921997.3:n.1798C>T
XR_921998.3:n.1912C>T
NM_004698.4:c.1823C>T MANE Select	NP_004689.1:p.Thr608Ile