Canonical Allele Identifier: CA346665111

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1671048851
• gnomAD v3: 2-43905773-T-A
• gnomAD v4: 2-43905773-T-A
• MyVariant Identifiers: chr2:g.44132912T>A (hg19) ; chr2:g.43905773T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905773T>A , CM000664.2:g.43905773T>A	GRCh38
NC_000002.11:g.44132912T>A , CM000664.1:g.44132912T>A	GRCh37
NC_000002.10:g.43986416T>A	NCBI36
NG_008247.1:g.95233A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.362A>T
ENST00000681993.1:n.835A>T
ENST00000682295.1:c.438A>T	ENSP00000507499.1:n.438A>T
ENST00000682303.1:c.*3069A>T	ENSP00000508325.1:n.*3069A>T
ENST00000682308.1:c.3283A>T	ENSP00000507056.1:p.Thr1095Ser
ENST00000682480.1:c.3301A>T	ENSP00000508344.1:p.Thr1101Ser
ENST00000682546.1:c.3280A>T	ENSP00000508188.1:p.Thr1094Ser
ENST00000682585.1:c.3283A>T	ENSP00000506885.1:p.Thr1095Ser
ENST00000682595.1:n.3867A>T
ENST00000682607.1:c.1701A>T
ENST00000682612.1:c.135A>T
ENST00000682779.1:c.3274A>T	ENSP00000507947.1:p.Thr1092Ser
ENST00000682845.1:n.2385A>T
ENST00000682885.1:c.3238A>T	ENSP00000508036.1:p.Thr1080Ser
ENST00000682933.1:n.3357A>T
ENST00000683002.1:c.135A>T
ENST00000683072.1:n.3867A>T
ENST00000683080.1:n.902A>T
ENST00000683125.1:c.3391A>T	ENSP00000507939.1:p.Thr1131Ser
ENST00000683213.1:c.3286A>T	ENSP00000507751.1:p.Thr1096Ser
ENST00000683220.1:c.3313A>T	ENSP00000507151.1:p.Thr1105Ser
ENST00000683329.1:n.4086A>T
ENST00000683346.1:c.*3158A>T	ENSP00000507458.1:n.*3158A>T
ENST00000683409.1:n.1890A>T
ENST00000683459.1:n.3870A>T
ENST00000683528.1:c.135A>T
ENST00000683590.1:c.3031A>T	ENSP00000506820.1:p.Thr1011Ser
ENST00000683623.1:c.3190A>T	ENSP00000507702.1:p.Thr1064Ser
ENST00000683645.1:n.3834A>T
ENST00000683796.1:c.*3155A>T	ENSP00000508221.1:n.*3155A>T
ENST00000683802.1:n.6208A>T
ENST00000683833.1:c.3274A>T	ENSP00000506852.1:p.Thr1092Ser
ENST00000683994.1:c.3283A>T	ENSP00000507181.1:p.Thr1095Ser
ENST00000684290.1:c.*819A>T	ENSP00000507243.1:n.*819A>T
ENST00000684306.1:c.*3196A>T	ENSP00000508384.1:n.*3196A>T
ENST00000684341.1:n.3303A>T
ENST00000684383.1:c.*2921A>T	ENSP00000506863.1:n.*2921A>T
ENST00000684418.1:n.4464A>T
ENST00000684454.1:n.2633A>T
ENST00000684619.1:c.*3155A>T	ENSP00000508088.1:n.*3155A>T
ENST00000684743.1:n.4314A>T
ENST00000260665.12:c.3283A>T MANE Select	ENSP00000260665.7:p.Thr1095Ser
ENST00000260665.11:c.3283A>T	ENSP00000260665.7:p.Thr1095Ser
NM_133259.3:c.3283A>T	NP_573566.2:p.Thr1095Ser
XM_006711915.2:c.3205A>T	XP_006711978.1:p.Thr1069Ser
XM_011532473.1:c.3283A>T	XP_011530775.1:p.Thr1095Ser
XM_011532474.1:c.3283A>T	XP_011530776.1:p.Thr1095Ser
XM_017003117.1:c.3205A>T	XP_016858606.1:p.Thr1069Ser
XR_002958896.1:n.3325A>T
NM_133259.4:c.3283A>T MANE Select	NP_573566.2:p.Thr1095Ser