Canonical Allele Identifier: CA346665121

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132915C>A (hg19) ; chr2:g.43905776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905776C>A , CM000664.2:g.43905776C>A	GRCh38
NC_000002.11:g.44132915C>A , CM000664.1:g.44132915C>A	GRCh37
NC_000002.10:g.43986419C>A	NCBI36
NG_008247.1:g.95230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.359G>T
ENST00000681993.1:n.832G>T
ENST00000682295.1:c.435G>T	ENSP00000507499.1:n.435G>T
ENST00000682303.1:c.*3066G>T	ENSP00000508325.1:n.*3066G>T
ENST00000682308.1:c.3280G>T	ENSP00000507056.1:p.Glu1094Ter
ENST00000682480.1:c.3298G>T	ENSP00000508344.1:p.Glu1100Ter
ENST00000682546.1:c.3277G>T	ENSP00000508188.1:p.Glu1093Ter
ENST00000682585.1:c.3280G>T	ENSP00000506885.1:p.Glu1094Ter
ENST00000682595.1:n.3864G>T
ENST00000682607.1:c.1698G>T
ENST00000682612.1:c.132G>T
ENST00000682779.1:c.3271G>T	ENSP00000507947.1:p.Glu1091Ter
ENST00000682845.1:n.2382G>T
ENST00000682885.1:c.3235G>T	ENSP00000508036.1:p.Glu1079Ter
ENST00000682933.1:n.3354G>T
ENST00000683002.1:c.132G>T
ENST00000683072.1:n.3864G>T
ENST00000683080.1:n.899G>T
ENST00000683125.1:c.3388G>T	ENSP00000507939.1:p.Glu1130Ter
ENST00000683213.1:c.3283G>T	ENSP00000507751.1:p.Glu1095Ter
ENST00000683220.1:c.3310G>T	ENSP00000507151.1:p.Glu1104Ter
ENST00000683329.1:n.4083G>T
ENST00000683346.1:c.*3155G>T	ENSP00000507458.1:n.*3155G>T
ENST00000683409.1:n.1887G>T
ENST00000683459.1:n.3867G>T
ENST00000683528.1:c.132G>T
ENST00000683590.1:c.3028G>T	ENSP00000506820.1:p.Glu1010Ter
ENST00000683623.1:c.3187G>T	ENSP00000507702.1:p.Glu1063Ter
ENST00000683645.1:n.3831G>T
ENST00000683796.1:c.*3152G>T	ENSP00000508221.1:n.*3152G>T
ENST00000683802.1:n.6205G>T
ENST00000683833.1:c.3271G>T	ENSP00000506852.1:p.Glu1091Ter
ENST00000683994.1:c.3280G>T	ENSP00000507181.1:p.Glu1094Ter
ENST00000684290.1:c.*816G>T	ENSP00000507243.1:n.*816G>T
ENST00000684306.1:c.*3193G>T	ENSP00000508384.1:n.*3193G>T
ENST00000684341.1:n.3300G>T
ENST00000684383.1:c.*2918G>T	ENSP00000506863.1:n.*2918G>T
ENST00000684418.1:n.4461G>T
ENST00000684454.1:n.2630G>T
ENST00000684619.1:c.*3152G>T	ENSP00000508088.1:n.*3152G>T
ENST00000684743.1:n.4311G>T
ENST00000260665.12:c.3280G>T MANE Select	ENSP00000260665.7:p.Glu1094Ter
ENST00000260665.11:c.3280G>T	ENSP00000260665.7:p.Glu1094Ter
NM_133259.3:c.3280G>T	NP_573566.2:p.Glu1094Ter
XM_006711915.2:c.3202G>T	XP_006711978.1:p.Glu1068Ter
XM_011532473.1:c.3280G>T	XP_011530775.1:p.Glu1094Ter
XM_011532474.1:c.3280G>T	XP_011530776.1:p.Glu1094Ter
XM_017003117.1:c.3202G>T	XP_016858606.1:p.Glu1068Ter
XR_002958896.1:n.3322G>T
NM_133259.4:c.3280G>T MANE Select	NP_573566.2:p.Glu1094Ter