Canonical Allele Identifier: CA346668123

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145218C>G (hg19) ; chr2:g.43918079C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918079C>G , CM000664.2:g.43918079C>G	GRCh38
NC_000002.11:g.44145218C>G , CM000664.1:g.44145218C>G	GRCh37
NC_000002.10:g.43998722C>G	NCBI36
NG_008247.1:g.82927G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.646G>C
ENST00000682295.1:c.303+177G>C	ENSP00000507499.1:n.303+177G>C
ENST00000682303.1:c.*2880G>C	ENSP00000508325.1:n.*2880G>C
ENST00000682308.1:c.3094G>C	ENSP00000507056.1:p.Glu1032Gln
ENST00000682480.1:c.3112G>C	ENSP00000508344.1:p.Glu1038Gln
ENST00000682546.1:c.3091G>C	ENSP00000508188.1:p.Glu1031Gln
ENST00000682585.1:c.3094G>C	ENSP00000506885.1:p.Glu1032Gln
ENST00000682595.1:n.3678G>C
ENST00000682607.1:c.1512G>C
ENST00000682779.1:c.3085G>C	ENSP00000507947.1:p.Glu1029Gln
ENST00000682845.1:n.2196G>C
ENST00000682885.1:c.3049G>C	ENSP00000508036.1:p.Glu1017Gln
ENST00000682933.1:n.3168G>C
ENST00000683072.1:n.3678G>C
ENST00000683080.1:n.713G>C
ENST00000683125.1:c.3202G>C	ENSP00000507939.1:p.Glu1068Gln
ENST00000683213.1:c.3097G>C	ENSP00000507751.1:p.Glu1033Gln
ENST00000683220.1:c.3124G>C	ENSP00000507151.1:p.Glu1042Gln
ENST00000683329.1:n.3897G>C
ENST00000683346.1:c.*2969G>C	ENSP00000507458.1:n.*2969G>C
ENST00000683409.1:n.1701G>C
ENST00000683459.1:n.3681G>C
ENST00000683590.1:c.2897-5521G>C	ENSP00000506820.1:n.2897-5521G>C
ENST00000683623.1:c.3001G>C	ENSP00000507702.1:p.Glu1001Gln
ENST00000683645.1:n.3645G>C
ENST00000683796.1:c.*2966G>C	ENSP00000508221.1:n.*2966G>C
ENST00000683802.1:n.6019G>C
ENST00000683833.1:c.3085G>C	ENSP00000506852.1:p.Glu1029Gln
ENST00000683994.1:c.3094G>C	ENSP00000507181.1:p.Glu1032Gln
ENST00000684290.1:c.*630G>C	ENSP00000507243.1:n.*630G>C
ENST00000684306.1:c.*3007G>C	ENSP00000508384.1:n.*3007G>C
ENST00000684341.1:n.3114G>C
ENST00000684383.1:c.*2732G>C	ENSP00000506863.1:n.*2732G>C
ENST00000684619.1:c.*2966G>C	ENSP00000508088.1:n.*2966G>C
ENST00000684705.1:n.215G>C
ENST00000684743.1:n.4125G>C
ENST00000260665.12:c.3094G>C MANE Select	ENSP00000260665.7:p.Glu1032Gln
ENST00000260665.11:c.3094G>C	ENSP00000260665.7:p.Glu1032Gln
NM_133259.3:c.3094G>C	NP_573566.2:p.Glu1032Gln
XM_006711915.2:c.3016G>C	XP_006711978.1:p.Glu1006Gln
XM_006711916.2:c.3094G>C	XP_006711979.1:p.Glu1032Gln
XM_011532473.1:c.3094G>C	XP_011530775.1:p.Glu1032Gln
XM_011532474.1:c.3094G>C	XP_011530776.1:p.Glu1032Gln
XM_006711916.3:c.3094G>C	XP_006711979.1:p.Glu1032Gln
XM_017003117.1:c.3016G>C	XP_016858606.1:p.Glu1006Gln
XR_002958896.1:n.3136G>C
NM_133259.4:c.3094G>C MANE Select	NP_573566.2:p.Glu1032Gln