Canonical Allele Identifier: CA346665073
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43905755-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905755T>C , CM000664.2:g.43905755T>C GRCh38
NC_000002.11:g.44132894T>C , CM000664.1:g.44132894T>C GRCh37
NC_000002.10:g.43986398T>C NCBI36
NG_008247.1:g.95251A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.380A>G
ENST00000681993.1:n.853A>G
ENST00000682295.1:c.456A>G ENSP00000507499.1:n.456A>G
ENST00000682303.1:c.*3087A>G ENSP00000508325.1:n.*3087A>G
ENST00000682308.1:c.3301A>G ENSP00000507056.1:p.Thr1101Ala
ENST00000682480.1:c.3319A>G ENSP00000508344.1:p.Thr1107Ala
ENST00000682546.1:c.3298A>G ENSP00000508188.1:p.Thr1100Ala
ENST00000682585.1:c.3301A>G ENSP00000506885.1:p.Thr1101Ala
ENST00000682595.1:n.3885A>G
ENST00000682607.1:c.1719A>G
ENST00000682612.1:c.153A>G
ENST00000682779.1:c.3292A>G ENSP00000507947.1:p.Thr1098Ala
ENST00000682845.1:n.2403A>G
ENST00000682885.1:c.3256A>G ENSP00000508036.1:p.Thr1086Ala
ENST00000682933.1:n.3375A>G
ENST00000683002.1:c.153A>G
ENST00000683072.1:n.3885A>G
ENST00000683080.1:n.920A>G
ENST00000683125.1:c.3409A>G ENSP00000507939.1:p.Thr1137Ala
ENST00000683213.1:c.3304A>G ENSP00000507751.1:p.Thr1102Ala
ENST00000683220.1:c.3331A>G ENSP00000507151.1:p.Thr1111Ala
ENST00000683329.1:n.4104A>G
ENST00000683346.1:c.*3176A>G ENSP00000507458.1:n.*3176A>G
ENST00000683409.1:n.1908A>G
ENST00000683459.1:n.3888A>G
ENST00000683528.1:c.153A>G
ENST00000683590.1:c.3049A>G ENSP00000506820.1:p.Thr1017Ala
ENST00000683623.1:c.3208A>G ENSP00000507702.1:p.Thr1070Ala
ENST00000683645.1:n.3852A>G
ENST00000683796.1:c.*3173A>G ENSP00000508221.1:n.*3173A>G
ENST00000683802.1:n.6226A>G
ENST00000683833.1:c.3292A>G ENSP00000506852.1:p.Thr1098Ala
ENST00000683994.1:c.3301A>G ENSP00000507181.1:p.Thr1101Ala
ENST00000684290.1:c.*837A>G ENSP00000507243.1:n.*837A>G
ENST00000684306.1:c.*3214A>G ENSP00000508384.1:n.*3214A>G
ENST00000684341.1:n.3321A>G
ENST00000684383.1:c.*2939A>G ENSP00000506863.1:n.*2939A>G
ENST00000684418.1:n.4482A>G
ENST00000684454.1:n.2651A>G
ENST00000684619.1:c.*3173A>G ENSP00000508088.1:n.*3173A>G
ENST00000684743.1:n.4332A>G
ENST00000260665.12:c.3301A>G MANE Select ENSP00000260665.7:p.Thr1101Ala
ENST00000260665.11:c.3301A>G ENSP00000260665.7:p.Thr1101Ala
NM_133259.3:c.3301A>G NP_573566.2:p.Thr1101Ala
XM_006711915.2:c.3223A>G XP_006711978.1:p.Thr1075Ala
XM_011532473.1:c.3301A>G XP_011530775.1:p.Thr1101Ala
XM_011532474.1:c.3301A>G XP_011530776.1:p.Thr1101Ala
XM_017003117.1:c.3223A>G XP_016858606.1:p.Thr1075Ala
XR_002958896.1:n.3343A>G
NM_133259.4:c.3301A>G MANE Select NP_573566.2:p.Thr1101Ala