Canonical Allele Identifier: CA346676385

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126377T>G (hg19) ; chr2:g.43899238T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899238T>G , CM000664.2:g.43899238T>G	GRCh38
NC_000002.11:g.44126377T>G , CM000664.1:g.44126377T>G	GRCh37
NC_000002.10:g.43979881T>G	NCBI36
NG_008247.1:g.101768A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.237A>C
ENST00000472420.6:n.885A>C
ENST00000483489.2:n.237A>C
ENST00000681993.1:n.1358A>C
ENST00000682303.1:c.*3592A>C	ENSP00000508325.1:n.*3592A>C
ENST00000682308.1:c.3806A>C	ENSP00000507056.1:p.Asp1269Ala
ENST00000682434.1:n.1357A>C
ENST00000682480.1:c.3824A>C	ENSP00000508344.1:p.Asp1275Ala
ENST00000682546.1:c.3803A>C	ENSP00000508188.1:p.Asp1268Ala
ENST00000682585.1:c.3806A>C	ENSP00000506885.1:p.Asp1269Ala
ENST00000682595.1:n.4390A>C
ENST00000682607.1:c.2224A>C
ENST00000682612.1:c.658A>C
ENST00000682779.1:c.3797A>C	ENSP00000507947.1:p.Asp1266Ala
ENST00000682885.1:c.3761A>C	ENSP00000508036.1:p.Asp1254Ala
ENST00000682933.1:n.3880A>C
ENST00000683002.1:c.658A>C
ENST00000683072.1:n.4390A>C
ENST00000683080.1:n.1425A>C
ENST00000683125.1:c.3914A>C	ENSP00000507939.1:p.Asp1305Ala
ENST00000683213.1:c.3809A>C	ENSP00000507751.1:p.Asp1270Ala
ENST00000683220.1:c.3836A>C	ENSP00000507151.1:p.Asp1279Ala
ENST00000683329.1:n.4609A>C
ENST00000683346.1:c.*3681A>C	ENSP00000507458.1:n.*3681A>C
ENST00000683409.1:n.2413A>C
ENST00000683459.1:n.4393A>C
ENST00000683528.1:c.734A>C
ENST00000683590.1:c.3554A>C	ENSP00000506820.1:p.Asp1185Ala
ENST00000683623.1:c.3713A>C	ENSP00000507702.1:p.Asp1238Ala
ENST00000683645.1:n.4357A>C
ENST00000683796.1:c.*3678A>C	ENSP00000508221.1:n.*3678A>C
ENST00000683802.1:n.6731A>C
ENST00000683833.1:c.3797A>C	ENSP00000506852.1:p.Asp1266Ala
ENST00000683994.1:c.3806A>C	ENSP00000507181.1:p.Asp1269Ala
ENST00000684290.1:c.*1342A>C	ENSP00000507243.1:n.*1342A>C
ENST00000684306.1:c.*3719A>C	ENSP00000508384.1:n.*3719A>C
ENST00000684341.1:n.3826A>C
ENST00000684383.1:c.*3444A>C	ENSP00000506863.1:n.*3444A>C
ENST00000684418.1:n.4987A>C
ENST00000684433.1:n.190A>C
ENST00000684454.1:n.3156A>C
ENST00000684619.1:c.*3678A>C	ENSP00000508088.1:n.*3678A>C
ENST00000684743.1:n.6551A>C
ENST00000260665.12:c.3806A>C MANE Select	ENSP00000260665.7:p.Asp1269Ala
ENST00000260665.11:c.3806A>C	ENSP00000260665.7:p.Asp1269Ala
ENST00000419884.5:c.47A>C	ENSP00000414207.1:p.Asp16Ala
ENST00000463456.5:n.2849A>C
ENST00000472420.5:n.203A>C
ENST00000483489.1:n.280A>C
NM_133259.3:c.3806A>C	NP_573566.2:p.Asp1269Ala
XM_006711915.2:c.3728A>C	XP_006711978.1:p.Asp1243Ala
XM_011532473.1:c.3806A>C	XP_011530775.1:p.Asp1269Ala
XM_011532474.1:c.3806A>C	XP_011530776.1:p.Asp1269Ala
XM_017003117.1:c.3728A>C	XP_016858606.1:p.Asp1243Ala
XR_002958896.1:n.3848A>C
NM_133259.4:c.3806A>C MANE Select	NP_573566.2:p.Asp1269Ala