Canonical Allele Identifier: CA346673458

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44171021A>G (hg19) ; chr2:g.43943882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943882A>G , CM000664.2:g.43943882A>G	GRCh38
NC_000002.11:g.44171021A>G , CM000664.1:g.44171021A>G	GRCh37
NC_000002.10:g.44024525A>G	NCBI36
NG_008247.1:g.57124T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2309T>C	ENSP00000386562.2:p.Ile770Thr
ENST00000447246.2:c.2309T>C	ENSP00000403637.2:p.Ile770Thr
ENST00000681961.1:n.2329T>C
ENST00000682104.1:c.2183T>C	ENSP00000507716.1:p.Ile728Thr
ENST00000682303.1:c.*2095T>C	ENSP00000508325.1:n.*2095T>C
ENST00000682308.1:c.2309T>C	ENSP00000507056.1:p.Ile770Thr
ENST00000682480.1:c.2309T>C	ENSP00000508344.1:p.Ile770Thr
ENST00000682546.1:c.2306T>C	ENSP00000508188.1:p.Ile769Thr
ENST00000682585.1:c.2309T>C	ENSP00000506885.1:p.Ile770Thr
ENST00000682595.1:n.2891T>C
ENST00000682607.1:c.727T>C
ENST00000682779.1:c.2300T>C	ENSP00000507947.1:p.Ile767Thr
ENST00000682845.1:n.1411T>C
ENST00000682885.1:c.2264T>C	ENSP00000508036.1:p.Ile755Thr
ENST00000682933.1:n.2383T>C
ENST00000683072.1:n.2891T>C
ENST00000683125.1:c.2309T>C	ENSP00000507939.1:p.Ile770Thr
ENST00000683213.1:c.2312T>C	ENSP00000507751.1:p.Ile771Thr
ENST00000683220.1:c.2339T>C	ENSP00000507151.1:p.Ile780Thr
ENST00000683329.1:n.3112T>C
ENST00000683346.1:c.*2184T>C	ENSP00000507458.1:n.*2184T>C
ENST00000683459.1:n.2896T>C
ENST00000683590.1:c.2309T>C	ENSP00000506820.1:p.Ile770Thr
ENST00000683623.1:c.2297-81T>C	ENSP00000507702.1:n.2297-81T>C
ENST00000683645.1:n.2860T>C
ENST00000683694.1:n.1060T>C
ENST00000683796.1:c.*2181T>C	ENSP00000508221.1:n.*2181T>C
ENST00000683802.1:n.5234T>C
ENST00000683833.1:c.2300T>C	ENSP00000506852.1:p.Ile767Thr
ENST00000683989.1:c.2309T>C	ENSP00000507510.1:p.Ile770Thr
ENST00000683994.1:c.2309T>C	ENSP00000507181.1:p.Ile770Thr
ENST00000684290.1:c.*3T>C	ENSP00000507243.1:n.*3T>C
ENST00000684306.1:c.*2222T>C	ENSP00000508384.1:n.*2222T>C
ENST00000684341.1:n.2329T>C
ENST00000684383.1:c.*1947T>C	ENSP00000506863.1:n.*1947T>C
ENST00000684397.1:c.13T>C
ENST00000684619.1:c.*2181T>C	ENSP00000508088.1:n.*2181T>C
ENST00000684743.1:n.3340T>C
ENST00000260665.12:c.2309T>C MANE Select	ENSP00000260665.7:p.Ile770Thr
ENST00000260665.11:c.2309T>C	ENSP00000260665.7:p.Ile770Thr
NM_133259.3:c.2309T>C	NP_573566.2:p.Ile770Thr
XM_006711915.2:c.2231T>C	XP_006711978.1:p.Ile744Thr
XM_006711916.2:c.2309T>C	XP_006711979.1:p.Ile770Thr
XM_011532473.1:c.2309T>C	XP_011530775.1:p.Ile770Thr
XM_011532474.1:c.2309T>C	XP_011530776.1:p.Ile770Thr
XM_006711916.3:c.2309T>C	XP_006711979.1:p.Ile770Thr
XM_017003117.1:c.2231T>C	XP_016858606.1:p.Ile744Thr
XR_002958896.1:n.2351T>C
NM_133259.4:c.2309T>C MANE Select	NP_573566.2:p.Ile770Thr