Canonical Allele Identifier: CA425909989
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44172550G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43945411G>T , CM000664.2:g.43945411G>T GRCh38
NC_000002.11:g.44172550G>T , CM000664.1:g.44172550G>T GRCh37
NC_000002.10:g.44026054G>T NCBI36
NG_008247.1:g.55595C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409659.6:c.2217C>A ENSP00000386562.2:p.Arg739=
ENST00000447246.2:c.2217C>A ENSP00000403637.2:p.Arg739=
ENST00000681961.1:n.2237C>A
ENST00000682104.1:c.2091C>A ENSP00000507716.1:p.Arg697=
ENST00000682303.1:c.*2082+702C>A ENSP00000508325.1:n.*2082+702C>A
ENST00000682308.1:c.2217C>A ENSP00000507056.1:p.Arg739=
ENST00000682480.1:c.2217C>A ENSP00000508344.1:p.Arg739=
ENST00000682546.1:c.2214C>A ENSP00000508188.1:p.Arg738=
ENST00000682585.1:c.2217C>A ENSP00000506885.1:p.Arg739=
ENST00000682595.1:n.2799C>A
ENST00000682607.1:c.635C>A
ENST00000682779.1:c.2208C>A ENSP00000507947.1:p.Arg736=
ENST00000682885.1:c.2172C>A ENSP00000508036.1:p.Arg724=
ENST00000682933.1:n.2291C>A
ENST00000683072.1:n.2799C>A
ENST00000683125.1:c.2217C>A ENSP00000507939.1:p.Arg739=
ENST00000683213.1:c.2220C>A ENSP00000507751.1:p.Arg740=
ENST00000683220.1:c.2247C>A ENSP00000507151.1:p.Arg749=
ENST00000683329.1:n.3020C>A
ENST00000683346.1:c.*2092C>A ENSP00000507458.1:n.*2092C>A
ENST00000683459.1:n.2804C>A
ENST00000683590.1:c.2217C>A ENSP00000506820.1:p.Arg739=
ENST00000683623.1:c.2217C>A ENSP00000507702.1:p.Arg739=
ENST00000683645.1:n.2768C>A
ENST00000683694.1:n.968C>A
ENST00000683796.1:c.*2089C>A ENSP00000508221.1:n.*2089C>A
ENST00000683802.1:n.5142C>A
ENST00000683833.1:c.2208C>A ENSP00000506852.1:p.Arg736=
ENST00000683934.1:c.2103C>A
ENST00000683989.1:c.2217C>A ENSP00000507510.1:p.Arg739=
ENST00000683994.1:c.2217C>A ENSP00000507181.1:p.Arg739=
ENST00000684290.1:c.2210+702C>A ENSP00000507243.1:n.2210+702C>A
ENST00000684306.1:c.*2130C>A ENSP00000508384.1:n.*2130C>A
ENST00000684341.1:n.2237C>A
ENST00000684383.1:c.*1855C>A ENSP00000506863.1:n.*1855C>A
ENST00000684619.1:c.*2089C>A ENSP00000508088.1:n.*2089C>A
ENST00000684743.1:n.3248C>A
ENST00000260665.12:c.2217C>A MANE Select ENSP00000260665.7:p.Arg739=
ENST00000260665.11:c.2217C>A ENSP00000260665.7:p.Arg739=
NM_133259.3:c.2217C>A NP_573566.2:p.Arg739=
XM_006711915.2:c.2139C>A XP_006711978.1:p.Arg713=
XM_006711916.2:c.2217C>A XP_006711979.1:p.Arg739=
XM_011532473.1:c.2217C>A XP_011530775.1:p.Arg739=
XM_011532474.1:c.2217C>A XP_011530776.1:p.Arg739=
XM_006711916.3:c.2217C>A XP_006711979.1:p.Arg739=
XM_017003117.1:c.2139C>A XP_016858606.1:p.Arg713=
XR_002958896.1:n.2259C>A
NM_133259.4:c.2217C>A MANE Select NP_573566.2:p.Arg739=