Canonical Allele Identifier: CA346664831
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905693T>G , CM000664.2:g.43905693T>G GRCh38
NC_000002.11:g.44132832T>G , CM000664.1:g.44132832T>G GRCh37
NC_000002.10:g.43986336T>G NCBI36
NG_008247.1:g.95313A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.442A>C
ENST00000681993.1:n.915A>C
ENST00000682295.1:c.518A>C ENSP00000507499.1:n.518A>C
ENST00000682303.1:c.*3149A>C ENSP00000508325.1:n.*3149A>C
ENST00000682308.1:c.3363A>C ENSP00000507056.1:p.Lys1121Asn
ENST00000682480.1:c.3381A>C ENSP00000508344.1:p.Lys1127Asn
ENST00000682546.1:c.3360A>C ENSP00000508188.1:p.Lys1120Asn
ENST00000682585.1:c.3363A>C ENSP00000506885.1:p.Lys1121Asn
ENST00000682595.1:n.3947A>C
ENST00000682607.1:c.1781A>C
ENST00000682612.1:c.215A>C
ENST00000682779.1:c.3354A>C ENSP00000507947.1:p.Lys1118Asn
ENST00000682845.1:n.2465A>C
ENST00000682885.1:c.3318A>C ENSP00000508036.1:p.Lys1106Asn
ENST00000682933.1:n.3437A>C
ENST00000683002.1:c.215A>C
ENST00000683072.1:n.3947A>C
ENST00000683080.1:n.982A>C
ENST00000683125.1:c.3471A>C ENSP00000507939.1:p.Lys1157Asn
ENST00000683213.1:c.3366A>C ENSP00000507751.1:p.Lys1122Asn
ENST00000683220.1:c.3393A>C ENSP00000507151.1:p.Lys1131Asn
ENST00000683329.1:n.4166A>C
ENST00000683346.1:c.*3238A>C ENSP00000507458.1:n.*3238A>C
ENST00000683409.1:n.1970A>C
ENST00000683459.1:n.3950A>C
ENST00000683528.1:c.215A>C
ENST00000683590.1:c.3111A>C ENSP00000506820.1:p.Lys1037Asn
ENST00000683623.1:c.3270A>C ENSP00000507702.1:p.Lys1090Asn
ENST00000683645.1:n.3914A>C
ENST00000683796.1:c.*3235A>C ENSP00000508221.1:n.*3235A>C
ENST00000683802.1:n.6288A>C
ENST00000683833.1:c.3354A>C ENSP00000506852.1:p.Lys1118Asn
ENST00000683994.1:c.3363A>C ENSP00000507181.1:p.Lys1121Asn
ENST00000684290.1:c.*899A>C ENSP00000507243.1:n.*899A>C
ENST00000684306.1:c.*3276A>C ENSP00000508384.1:n.*3276A>C
ENST00000684341.1:n.3383A>C
ENST00000684383.1:c.*3001A>C ENSP00000506863.1:n.*3001A>C
ENST00000684418.1:n.4544A>C
ENST00000684454.1:n.2713A>C
ENST00000684619.1:c.*3235A>C ENSP00000508088.1:n.*3235A>C
ENST00000684743.1:n.4394A>C
ENST00000260665.12:c.3363A>C MANE Select ENSP00000260665.7:p.Lys1121Asn
ENST00000260665.11:c.3363A>C ENSP00000260665.7:p.Lys1121Asn
NM_133259.3:c.3363A>C NP_573566.2:p.Lys1121Asn
XM_006711915.2:c.3285A>C XP_006711978.1:p.Lys1095Asn
XM_011532473.1:c.3363A>C XP_011530775.1:p.Lys1121Asn
XM_011532474.1:c.3363A>C XP_011530776.1:p.Lys1121Asn
XM_017003117.1:c.3285A>C XP_016858606.1:p.Lys1095Asn
XR_002958896.1:n.3405A>C
NM_133259.4:c.3363A>C MANE Select NP_573566.2:p.Lys1121Asn