Canonical Allele Identifier: CA346672964

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44170946C>G (hg19) ; chr2:g.43943807C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943807C>G , CM000664.2:g.43943807C>G	GRCh38
NC_000002.11:g.44170946C>G , CM000664.1:g.44170946C>G	GRCh37
NC_000002.10:g.44024450C>G	NCBI36
NG_008247.1:g.57199G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2384G>C	ENSP00000386562.2:p.Gly795Ala
ENST00000447246.2:c.2384G>C	ENSP00000403637.2:p.Gly795Ala
ENST00000681961.1:n.2404G>C
ENST00000682104.1:c.2258G>C	ENSP00000507716.1:p.Gly753Ala
ENST00000682303.1:c.*2170G>C	ENSP00000508325.1:n.*2170G>C
ENST00000682308.1:c.2384G>C	ENSP00000507056.1:p.Gly795Ala
ENST00000682480.1:c.2384G>C	ENSP00000508344.1:p.Gly795Ala
ENST00000682546.1:c.2381G>C	ENSP00000508188.1:p.Gly794Ala
ENST00000682585.1:c.2384G>C	ENSP00000506885.1:p.Gly795Ala
ENST00000682595.1:n.2966G>C
ENST00000682607.1:c.802G>C
ENST00000682779.1:c.2375G>C	ENSP00000507947.1:p.Gly792Ala
ENST00000682845.1:n.1486G>C
ENST00000682885.1:c.2339G>C	ENSP00000508036.1:p.Gly780Ala
ENST00000682933.1:n.2458G>C
ENST00000683072.1:n.2966G>C
ENST00000683125.1:c.2384G>C	ENSP00000507939.1:p.Gly795Ala
ENST00000683213.1:c.2387G>C	ENSP00000507751.1:p.Gly796Ala
ENST00000683220.1:c.2414G>C	ENSP00000507151.1:p.Gly805Ala
ENST00000683329.1:n.3187G>C
ENST00000683346.1:c.*2259G>C	ENSP00000507458.1:n.*2259G>C
ENST00000683459.1:n.2971G>C
ENST00000683590.1:c.2384G>C	ENSP00000506820.1:p.Gly795Ala
ENST00000683623.1:c.2297-6G>C	ENSP00000507702.1:n.2297-6G>C
ENST00000683645.1:n.2935G>C
ENST00000683694.1:n.1135G>C
ENST00000683796.1:c.*2256G>C	ENSP00000508221.1:n.*2256G>C
ENST00000683802.1:n.5309G>C
ENST00000683833.1:c.2375G>C	ENSP00000506852.1:p.Gly792Ala
ENST00000683989.1:c.2384G>C	ENSP00000507510.1:p.Gly795Ala
ENST00000683994.1:c.2384G>C	ENSP00000507181.1:p.Gly795Ala
ENST00000684290.1:c.*78G>C	ENSP00000507243.1:n.*78G>C
ENST00000684306.1:c.*2297G>C	ENSP00000508384.1:n.*2297G>C
ENST00000684341.1:n.2404G>C
ENST00000684383.1:c.*2022G>C	ENSP00000506863.1:n.*2022G>C
ENST00000684397.1:c.88G>C
ENST00000684619.1:c.*2256G>C	ENSP00000508088.1:n.*2256G>C
ENST00000684743.1:n.3415G>C
ENST00000260665.12:c.2384G>C MANE Select	ENSP00000260665.7:p.Gly795Ala
ENST00000260665.11:c.2384G>C	ENSP00000260665.7:p.Gly795Ala
NM_133259.3:c.2384G>C	NP_573566.2:p.Gly795Ala
XM_006711915.2:c.2306G>C	XP_006711978.1:p.Gly769Ala
XM_006711916.2:c.2384G>C	XP_006711979.1:p.Gly795Ala
XM_011532473.1:c.2384G>C	XP_011530775.1:p.Gly795Ala
XM_011532474.1:c.2384G>C	XP_011530776.1:p.Gly795Ala
XM_006711916.3:c.2384G>C	XP_006711979.1:p.Gly795Ala
XM_017003117.1:c.2306G>C	XP_016858606.1:p.Gly769Ala
XR_002958896.1:n.2426G>C
NM_133259.4:c.2384G>C MANE Select	NP_573566.2:p.Gly795Ala