Canonical Allele Identifier: CA346665018
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905734T>A , CM000664.2:g.43905734T>A GRCh38
NC_000002.11:g.44132873T>A , CM000664.1:g.44132873T>A GRCh37
NC_000002.10:g.43986377T>A NCBI36
NG_008247.1:g.95272A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.401A>T
ENST00000681993.1:n.874A>T
ENST00000682295.1:c.477A>T ENSP00000507499.1:n.477A>T
ENST00000682303.1:c.*3108A>T ENSP00000508325.1:n.*3108A>T
ENST00000682308.1:c.3322A>T ENSP00000507056.1:p.Ser1108Cys
ENST00000682480.1:c.3340A>T ENSP00000508344.1:p.Ser1114Cys
ENST00000682546.1:c.3319A>T ENSP00000508188.1:p.Ser1107Cys
ENST00000682585.1:c.3322A>T ENSP00000506885.1:p.Ser1108Cys
ENST00000682595.1:n.3906A>T
ENST00000682607.1:c.1740A>T
ENST00000682612.1:c.174A>T
ENST00000682779.1:c.3313A>T ENSP00000507947.1:p.Ser1105Cys
ENST00000682845.1:n.2424A>T
ENST00000682885.1:c.3277A>T ENSP00000508036.1:p.Ser1093Cys
ENST00000682933.1:n.3396A>T
ENST00000683002.1:c.174A>T
ENST00000683072.1:n.3906A>T
ENST00000683080.1:n.941A>T
ENST00000683125.1:c.3430A>T ENSP00000507939.1:p.Ser1144Cys
ENST00000683213.1:c.3325A>T ENSP00000507751.1:p.Ser1109Cys
ENST00000683220.1:c.3352A>T ENSP00000507151.1:p.Ser1118Cys
ENST00000683329.1:n.4125A>T
ENST00000683346.1:c.*3197A>T ENSP00000507458.1:n.*3197A>T
ENST00000683409.1:n.1929A>T
ENST00000683459.1:n.3909A>T
ENST00000683528.1:c.174A>T
ENST00000683590.1:c.3070A>T ENSP00000506820.1:p.Ser1024Cys
ENST00000683623.1:c.3229A>T ENSP00000507702.1:p.Ser1077Cys
ENST00000683645.1:n.3873A>T
ENST00000683796.1:c.*3194A>T ENSP00000508221.1:n.*3194A>T
ENST00000683802.1:n.6247A>T
ENST00000683833.1:c.3313A>T ENSP00000506852.1:p.Ser1105Cys
ENST00000683994.1:c.3322A>T ENSP00000507181.1:p.Ser1108Cys
ENST00000684290.1:c.*858A>T ENSP00000507243.1:n.*858A>T
ENST00000684306.1:c.*3235A>T ENSP00000508384.1:n.*3235A>T
ENST00000684341.1:n.3342A>T
ENST00000684383.1:c.*2960A>T ENSP00000506863.1:n.*2960A>T
ENST00000684418.1:n.4503A>T
ENST00000684454.1:n.2672A>T
ENST00000684619.1:c.*3194A>T ENSP00000508088.1:n.*3194A>T
ENST00000684743.1:n.4353A>T
ENST00000260665.12:c.3322A>T MANE Select ENSP00000260665.7:p.Ser1108Cys
ENST00000260665.11:c.3322A>T ENSP00000260665.7:p.Ser1108Cys
NM_133259.3:c.3322A>T NP_573566.2:p.Ser1108Cys
XM_006711915.2:c.3244A>T XP_006711978.1:p.Ser1082Cys
XM_011532473.1:c.3322A>T XP_011530775.1:p.Ser1108Cys
XM_011532474.1:c.3322A>T XP_011530776.1:p.Ser1108Cys
XM_017003117.1:c.3244A>T XP_016858606.1:p.Ser1082Cys
XR_002958896.1:n.3364A>T
NM_133259.4:c.3322A>T MANE Select NP_573566.2:p.Ser1108Cys