Canonical Allele Identifier: CA346672451

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44170827T>G (hg19) ; chr2:g.43943688T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943688T>G , CM000664.2:g.43943688T>G	GRCh38
NC_000002.11:g.44170827T>G , CM000664.1:g.44170827T>G	GRCh37
NC_000002.10:g.44024331T>G	NCBI36
NG_008247.1:g.57318A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2503A>C	ENSP00000386562.2:p.Asn835His
ENST00000447246.2:c.2503A>C	ENSP00000403637.2:p.Lys835Gln
ENST00000681961.1:n.2523A>C
ENST00000682104.1:c.2377A>C	ENSP00000507716.1:p.Lys793Gln
ENST00000682303.1:c.*2289A>C	ENSP00000508325.1:n.*2289A>C
ENST00000682308.1:c.2503A>C	ENSP00000507056.1:p.Lys835Gln
ENST00000682480.1:c.2503A>C	ENSP00000508344.1:p.Lys835Gln
ENST00000682546.1:c.2500A>C	ENSP00000508188.1:p.Lys834Gln
ENST00000682585.1:c.2503A>C	ENSP00000506885.1:p.Lys835Gln
ENST00000682595.1:n.3085A>C
ENST00000682607.1:c.921A>C
ENST00000682779.1:c.2494A>C	ENSP00000507947.1:p.Lys832Gln
ENST00000682845.1:n.1605A>C
ENST00000682885.1:c.2458A>C	ENSP00000508036.1:p.Lys820Gln
ENST00000682933.1:n.2577A>C
ENST00000683072.1:n.3085A>C
ENST00000683125.1:c.2503A>C	ENSP00000507939.1:p.Lys835Gln
ENST00000683213.1:c.2506A>C	ENSP00000507751.1:p.Lys836Gln
ENST00000683220.1:c.2533A>C	ENSP00000507151.1:p.Lys845Gln
ENST00000683329.1:n.3306A>C
ENST00000683346.1:c.*2378A>C	ENSP00000507458.1:n.*2378A>C
ENST00000683459.1:n.3090A>C
ENST00000683590.1:c.2503A>C	ENSP00000506820.1:p.Lys835Gln
ENST00000683623.1:c.2410A>C	ENSP00000507702.1:p.Lys804Gln
ENST00000683645.1:n.3054A>C
ENST00000683694.1:n.1254A>C
ENST00000683796.1:c.*2375A>C	ENSP00000508221.1:n.*2375A>C
ENST00000683802.1:n.5428A>C
ENST00000683833.1:c.2494A>C	ENSP00000506852.1:p.Lys832Gln
ENST00000683989.1:c.2503A>C	ENSP00000507510.1:p.Lys835Gln
ENST00000683994.1:c.2503A>C	ENSP00000507181.1:p.Lys835Gln
ENST00000684290.1:c.*197A>C	ENSP00000507243.1:n.*197A>C
ENST00000684306.1:c.*2416A>C	ENSP00000508384.1:n.*2416A>C
ENST00000684341.1:n.2523A>C
ENST00000684383.1:c.*2141A>C	ENSP00000506863.1:n.*2141A>C
ENST00000684397.1:c.207A>C
ENST00000684619.1:c.*2375A>C	ENSP00000508088.1:n.*2375A>C
ENST00000684743.1:n.3534A>C
ENST00000260665.12:c.2503A>C MANE Select	ENSP00000260665.7:p.Lys835Gln
ENST00000260665.11:c.2503A>C	ENSP00000260665.7:p.Lys835Gln
NM_133259.3:c.2503A>C	NP_573566.2:p.Lys835Gln
XM_006711915.2:c.2425A>C	XP_006711978.1:p.Lys809Gln
XM_006711916.2:c.2503A>C	XP_006711979.1:p.Lys835Gln
XM_011532473.1:c.2503A>C	XP_011530775.1:p.Lys835Gln
XM_011532474.1:c.2503A>C	XP_011530776.1:p.Lys835Gln
XM_006711916.3:c.2503A>C	XP_006711979.1:p.Lys835Gln
XM_017003117.1:c.2425A>C	XP_016858606.1:p.Lys809Gln
XR_002958896.1:n.2545A>C
NM_133259.4:c.2503A>C MANE Select	NP_573566.2:p.Lys835Gln