Canonical Allele Identifier: CA346664946
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43905718-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905718G>T , CM000664.2:g.43905718G>T GRCh38
NC_000002.11:g.44132857G>T , CM000664.1:g.44132857G>T GRCh37
NC_000002.10:g.43986361G>T NCBI36
NG_008247.1:g.95288C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.417C>A
ENST00000681993.1:n.890C>A
ENST00000682295.1:c.493C>A ENSP00000507499.1:n.493C>A
ENST00000682303.1:c.*3124C>A ENSP00000508325.1:n.*3124C>A
ENST00000682308.1:c.3338C>A ENSP00000507056.1:p.Thr1113Lys
ENST00000682480.1:c.3356C>A ENSP00000508344.1:p.Thr1119Lys
ENST00000682546.1:c.3335C>A ENSP00000508188.1:p.Thr1112Lys
ENST00000682585.1:c.3338C>A ENSP00000506885.1:p.Thr1113Lys
ENST00000682595.1:n.3922C>A
ENST00000682607.1:c.1756C>A
ENST00000682612.1:c.190C>A
ENST00000682779.1:c.3329C>A ENSP00000507947.1:p.Thr1110Lys
ENST00000682845.1:n.2440C>A
ENST00000682885.1:c.3293C>A ENSP00000508036.1:p.Thr1098Lys
ENST00000682933.1:n.3412C>A
ENST00000683002.1:c.190C>A
ENST00000683072.1:n.3922C>A
ENST00000683080.1:n.957C>A
ENST00000683125.1:c.3446C>A ENSP00000507939.1:p.Thr1149Lys
ENST00000683213.1:c.3341C>A ENSP00000507751.1:p.Thr1114Lys
ENST00000683220.1:c.3368C>A ENSP00000507151.1:p.Thr1123Lys
ENST00000683329.1:n.4141C>A
ENST00000683346.1:c.*3213C>A ENSP00000507458.1:n.*3213C>A
ENST00000683409.1:n.1945C>A
ENST00000683459.1:n.3925C>A
ENST00000683528.1:c.190C>A
ENST00000683590.1:c.3086C>A ENSP00000506820.1:p.Thr1029Lys
ENST00000683623.1:c.3245C>A ENSP00000507702.1:p.Thr1082Lys
ENST00000683645.1:n.3889C>A
ENST00000683796.1:c.*3210C>A ENSP00000508221.1:n.*3210C>A
ENST00000683802.1:n.6263C>A
ENST00000683833.1:c.3329C>A ENSP00000506852.1:p.Thr1110Lys
ENST00000683994.1:c.3338C>A ENSP00000507181.1:p.Thr1113Lys
ENST00000684290.1:c.*874C>A ENSP00000507243.1:n.*874C>A
ENST00000684306.1:c.*3251C>A ENSP00000508384.1:n.*3251C>A
ENST00000684341.1:n.3358C>A
ENST00000684383.1:c.*2976C>A ENSP00000506863.1:n.*2976C>A
ENST00000684418.1:n.4519C>A
ENST00000684454.1:n.2688C>A
ENST00000684619.1:c.*3210C>A ENSP00000508088.1:n.*3210C>A
ENST00000684743.1:n.4369C>A
ENST00000260665.12:c.3338C>A MANE Select ENSP00000260665.7:p.Thr1113Lys
ENST00000260665.11:c.3338C>A ENSP00000260665.7:p.Thr1113Lys
NM_133259.3:c.3338C>A NP_573566.2:p.Thr1113Lys
XM_006711915.2:c.3260C>A XP_006711978.1:p.Thr1087Lys
XM_011532473.1:c.3338C>A XP_011530775.1:p.Thr1113Lys
XM_011532474.1:c.3338C>A XP_011530776.1:p.Thr1113Lys
XM_017003117.1:c.3260C>A XP_016858606.1:p.Thr1087Lys
XR_002958896.1:n.3380C>A
NM_133259.4:c.3338C>A MANE Select NP_573566.2:p.Thr1113Lys