Canonical Allele Identifier: CA346665060
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905747G>T , CM000664.2:g.43905747G>T GRCh38
NC_000002.11:g.44132886G>T , CM000664.1:g.44132886G>T GRCh37
NC_000002.10:g.43986390G>T NCBI36
NG_008247.1:g.95259C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.388C>A
ENST00000681993.1:n.861C>A
ENST00000682295.1:c.464C>A ENSP00000507499.1:n.464C>A
ENST00000682303.1:c.*3095C>A ENSP00000508325.1:n.*3095C>A
ENST00000682308.1:c.3309C>A ENSP00000507056.1:p.Asn1103Lys
ENST00000682480.1:c.3327C>A ENSP00000508344.1:p.Asn1109Lys
ENST00000682546.1:c.3306C>A ENSP00000508188.1:p.Asn1102Lys
ENST00000682585.1:c.3309C>A ENSP00000506885.1:p.Asn1103Lys
ENST00000682595.1:n.3893C>A
ENST00000682607.1:c.1727C>A
ENST00000682612.1:c.161C>A
ENST00000682779.1:c.3300C>A ENSP00000507947.1:p.Asn1100Lys
ENST00000682845.1:n.2411C>A
ENST00000682885.1:c.3264C>A ENSP00000508036.1:p.Asn1088Lys
ENST00000682933.1:n.3383C>A
ENST00000683002.1:c.161C>A
ENST00000683072.1:n.3893C>A
ENST00000683080.1:n.928C>A
ENST00000683125.1:c.3417C>A ENSP00000507939.1:p.Asn1139Lys
ENST00000683213.1:c.3312C>A ENSP00000507751.1:p.Asn1104Lys
ENST00000683220.1:c.3339C>A ENSP00000507151.1:p.Asn1113Lys
ENST00000683329.1:n.4112C>A
ENST00000683346.1:c.*3184C>A ENSP00000507458.1:n.*3184C>A
ENST00000683409.1:n.1916C>A
ENST00000683459.1:n.3896C>A
ENST00000683528.1:c.161C>A
ENST00000683590.1:c.3057C>A ENSP00000506820.1:p.Asn1019Lys
ENST00000683623.1:c.3216C>A ENSP00000507702.1:p.Asn1072Lys
ENST00000683645.1:n.3860C>A
ENST00000683796.1:c.*3181C>A ENSP00000508221.1:n.*3181C>A
ENST00000683802.1:n.6234C>A
ENST00000683833.1:c.3300C>A ENSP00000506852.1:p.Asn1100Lys
ENST00000683994.1:c.3309C>A ENSP00000507181.1:p.Asn1103Lys
ENST00000684290.1:c.*845C>A ENSP00000507243.1:n.*845C>A
ENST00000684306.1:c.*3222C>A ENSP00000508384.1:n.*3222C>A
ENST00000684341.1:n.3329C>A
ENST00000684383.1:c.*2947C>A ENSP00000506863.1:n.*2947C>A
ENST00000684418.1:n.4490C>A
ENST00000684454.1:n.2659C>A
ENST00000684619.1:c.*3181C>A ENSP00000508088.1:n.*3181C>A
ENST00000684743.1:n.4340C>A
ENST00000260665.12:c.3309C>A MANE Select ENSP00000260665.7:p.Asn1103Lys
ENST00000260665.11:c.3309C>A ENSP00000260665.7:p.Asn1103Lys
NM_133259.3:c.3309C>A NP_573566.2:p.Asn1103Lys
XM_006711915.2:c.3231C>A XP_006711978.1:p.Asn1077Lys
XM_011532473.1:c.3309C>A XP_011530775.1:p.Asn1103Lys
XM_011532474.1:c.3309C>A XP_011530776.1:p.Asn1103Lys
XM_017003117.1:c.3231C>A XP_016858606.1:p.Asn1077Lys
XR_002958896.1:n.3351C>A
NM_133259.4:c.3309C>A MANE Select NP_573566.2:p.Asn1103Lys