Canonical Allele Identifier: CA346668253
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918109A>T , CM000664.2:g.43918109A>T GRCh38
NC_000002.11:g.44145248A>T , CM000664.1:g.44145248A>T GRCh37
NC_000002.10:g.43998752A>T NCBI36
NG_008247.1:g.82897T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.616T>A
ENST00000682295.1:c.303+147T>A ENSP00000507499.1:n.303+147T>A
ENST00000682303.1:c.*2850T>A ENSP00000508325.1:n.*2850T>A
ENST00000682308.1:c.3064T>A ENSP00000507056.1:p.Ser1022Thr
ENST00000682480.1:c.3082T>A ENSP00000508344.1:p.Ser1028Thr
ENST00000682546.1:c.3061T>A ENSP00000508188.1:p.Ser1021Thr
ENST00000682585.1:c.3064T>A ENSP00000506885.1:p.Ser1022Thr
ENST00000682595.1:n.3648T>A
ENST00000682607.1:c.1482T>A
ENST00000682779.1:c.3055T>A ENSP00000507947.1:p.Ser1019Thr
ENST00000682845.1:n.2166T>A
ENST00000682885.1:c.3019T>A ENSP00000508036.1:p.Ser1007Thr
ENST00000682933.1:n.3138T>A
ENST00000683072.1:n.3648T>A
ENST00000683080.1:n.683T>A
ENST00000683125.1:c.3172T>A ENSP00000507939.1:p.Ser1058Thr
ENST00000683213.1:c.3067T>A ENSP00000507751.1:p.Ser1023Thr
ENST00000683220.1:c.3094T>A ENSP00000507151.1:p.Ser1032Thr
ENST00000683329.1:n.3867T>A
ENST00000683346.1:c.*2939T>A ENSP00000507458.1:n.*2939T>A
ENST00000683409.1:n.1671T>A
ENST00000683459.1:n.3651T>A
ENST00000683590.1:c.2897-5551T>A ENSP00000506820.1:n.2897-5551T>A
ENST00000683623.1:c.2971T>A ENSP00000507702.1:p.Ser991Thr
ENST00000683645.1:n.3615T>A
ENST00000683796.1:c.*2936T>A ENSP00000508221.1:n.*2936T>A
ENST00000683802.1:n.5989T>A
ENST00000683833.1:c.3055T>A ENSP00000506852.1:p.Ser1019Thr
ENST00000683994.1:c.3064T>A ENSP00000507181.1:p.Ser1022Thr
ENST00000684290.1:c.*600T>A ENSP00000507243.1:n.*600T>A
ENST00000684306.1:c.*2977T>A ENSP00000508384.1:n.*2977T>A
ENST00000684341.1:n.3084T>A
ENST00000684383.1:c.*2702T>A ENSP00000506863.1:n.*2702T>A
ENST00000684619.1:c.*2936T>A ENSP00000508088.1:n.*2936T>A
ENST00000684705.1:n.185T>A
ENST00000684743.1:n.4095T>A
ENST00000260665.12:c.3064T>A MANE Select ENSP00000260665.7:p.Ser1022Thr
ENST00000260665.11:c.3064T>A ENSP00000260665.7:p.Ser1022Thr
NM_133259.3:c.3064T>A NP_573566.2:p.Ser1022Thr
XM_006711915.2:c.2986T>A XP_006711978.1:p.Ser996Thr
XM_006711916.2:c.3064T>A XP_006711979.1:p.Ser1022Thr
XM_011532473.1:c.3064T>A XP_011530775.1:p.Ser1022Thr
XM_011532474.1:c.3064T>A XP_011530776.1:p.Ser1022Thr
XM_006711916.3:c.3064T>A XP_006711979.1:p.Ser1022Thr
XM_017003117.1:c.2986T>A XP_016858606.1:p.Ser996Thr
XR_002958896.1:n.3106T>A
NM_133259.4:c.3064T>A MANE Select NP_573566.2:p.Ser1022Thr