Canonical Allele Identifier: CA346668418
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918273G>A , CM000664.2:g.43918273G>A GRCh38
NC_000002.11:g.44145412G>A , CM000664.1:g.44145412G>A GRCh37
NC_000002.10:g.43998916G>A NCBI36
NG_008247.1:g.82733C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.574C>T
ENST00000682295.1:c.286C>T ENSP00000507499.1:p.Pro96Ser
ENST00000682303.1:c.*2808C>T ENSP00000508325.1:n.*2808C>T
ENST00000682308.1:c.3022C>T ENSP00000507056.1:p.Pro1008Ser
ENST00000682480.1:c.3022C>T ENSP00000508344.1:p.Pro1008Ser
ENST00000682546.1:c.3019C>T ENSP00000508188.1:p.Pro1007Ser
ENST00000682585.1:c.3022C>T ENSP00000506885.1:p.Pro1008Ser
ENST00000682595.1:n.3606C>T
ENST00000682607.1:c.1440C>T
ENST00000682779.1:c.3013C>T ENSP00000507947.1:p.Pro1005Ser
ENST00000682845.1:n.2124C>T
ENST00000682885.1:c.2977C>T ENSP00000508036.1:p.Pro993Ser
ENST00000682933.1:n.3096C>T
ENST00000683072.1:n.3606C>T
ENST00000683080.1:n.641C>T
ENST00000683125.1:c.3130C>T ENSP00000507939.1:p.Pro1044Ser
ENST00000683213.1:c.3025C>T ENSP00000507751.1:p.Pro1009Ser
ENST00000683220.1:c.3052C>T ENSP00000507151.1:p.Pro1018Ser
ENST00000683236.1:c.352C>T ENSP00000506891.1:n.352C>T
ENST00000683329.1:n.3825C>T
ENST00000683346.1:c.*2897C>T ENSP00000507458.1:n.*2897C>T
ENST00000683409.1:n.1629C>T
ENST00000683459.1:n.3609C>T
ENST00000683590.1:c.2897-5715C>T ENSP00000506820.1:n.2897-5715C>T
ENST00000683623.1:c.2929C>T ENSP00000507702.1:p.Pro977Ser
ENST00000683645.1:n.3573C>T
ENST00000683796.1:c.*2894C>T ENSP00000508221.1:n.*2894C>T
ENST00000683802.1:n.5947C>T
ENST00000683833.1:c.3013C>T ENSP00000506852.1:p.Pro1005Ser
ENST00000683994.1:c.3022C>T ENSP00000507181.1:p.Pro1008Ser
ENST00000684290.1:c.*558C>T ENSP00000507243.1:n.*558C>T
ENST00000684306.1:c.*2935C>T ENSP00000508384.1:n.*2935C>T
ENST00000684341.1:n.3042C>T
ENST00000684383.1:c.*2660C>T ENSP00000506863.1:n.*2660C>T
ENST00000684619.1:c.*2894C>T ENSP00000508088.1:n.*2894C>T
ENST00000684705.1:n.143C>T
ENST00000684743.1:n.4053C>T
ENST00000260665.12:c.3022C>T MANE Select ENSP00000260665.7:p.Pro1008Ser
ENST00000260665.11:c.3022C>T ENSP00000260665.7:p.Pro1008Ser
NM_133259.3:c.3022C>T NP_573566.2:p.Pro1008Ser
XM_006711915.2:c.2944C>T XP_006711978.1:p.Pro982Ser
XM_006711916.2:c.3022C>T XP_006711979.1:p.Pro1008Ser
XM_011532473.1:c.3022C>T XP_011530775.1:p.Pro1008Ser
XM_011532474.1:c.3022C>T XP_011530776.1:p.Pro1008Ser
XM_006711916.3:c.3022C>T XP_006711979.1:p.Pro1008Ser
XM_017003117.1:c.2944C>T XP_016858606.1:p.Pro982Ser
XR_002958896.1:n.3064C>T
NM_133259.4:c.3022C>T MANE Select NP_573566.2:p.Pro1008Ser