Canonical Allele Identifier: CA346665097
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905766A>C , CM000664.2:g.43905766A>C GRCh38
NC_000002.11:g.44132905A>C , CM000664.1:g.44132905A>C GRCh37
NC_000002.10:g.43986409A>C NCBI36
NG_008247.1:g.95240T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.369T>G
ENST00000681993.1:n.842T>G
ENST00000682295.1:c.445T>G ENSP00000507499.1:n.445T>G
ENST00000682303.1:c.*3076T>G ENSP00000508325.1:n.*3076T>G
ENST00000682308.1:c.3290T>G ENSP00000507056.1:p.Ile1097Ser
ENST00000682480.1:c.3308T>G ENSP00000508344.1:p.Ile1103Ser
ENST00000682546.1:c.3287T>G ENSP00000508188.1:p.Ile1096Ser
ENST00000682585.1:c.3290T>G ENSP00000506885.1:p.Ile1097Ser
ENST00000682595.1:n.3874T>G
ENST00000682607.1:c.1708T>G
ENST00000682612.1:c.142T>G
ENST00000682779.1:c.3281T>G ENSP00000507947.1:p.Ile1094Ser
ENST00000682845.1:n.2392T>G
ENST00000682885.1:c.3245T>G ENSP00000508036.1:p.Ile1082Ser
ENST00000682933.1:n.3364T>G
ENST00000683002.1:c.142T>G
ENST00000683072.1:n.3874T>G
ENST00000683080.1:n.909T>G
ENST00000683125.1:c.3398T>G ENSP00000507939.1:p.Ile1133Ser
ENST00000683213.1:c.3293T>G ENSP00000507751.1:p.Ile1098Ser
ENST00000683220.1:c.3320T>G ENSP00000507151.1:p.Ile1107Ser
ENST00000683329.1:n.4093T>G
ENST00000683346.1:c.*3165T>G ENSP00000507458.1:n.*3165T>G
ENST00000683409.1:n.1897T>G
ENST00000683459.1:n.3877T>G
ENST00000683528.1:c.142T>G
ENST00000683590.1:c.3038T>G ENSP00000506820.1:p.Ile1013Ser
ENST00000683623.1:c.3197T>G ENSP00000507702.1:p.Ile1066Ser
ENST00000683645.1:n.3841T>G
ENST00000683796.1:c.*3162T>G ENSP00000508221.1:n.*3162T>G
ENST00000683802.1:n.6215T>G
ENST00000683833.1:c.3281T>G ENSP00000506852.1:p.Ile1094Ser
ENST00000683994.1:c.3290T>G ENSP00000507181.1:p.Ile1097Ser
ENST00000684290.1:c.*826T>G ENSP00000507243.1:n.*826T>G
ENST00000684306.1:c.*3203T>G ENSP00000508384.1:n.*3203T>G
ENST00000684341.1:n.3310T>G
ENST00000684383.1:c.*2928T>G ENSP00000506863.1:n.*2928T>G
ENST00000684418.1:n.4471T>G
ENST00000684454.1:n.2640T>G
ENST00000684619.1:c.*3162T>G ENSP00000508088.1:n.*3162T>G
ENST00000684743.1:n.4321T>G
ENST00000260665.12:c.3290T>G MANE Select ENSP00000260665.7:p.Ile1097Ser
ENST00000260665.11:c.3290T>G ENSP00000260665.7:p.Ile1097Ser
NM_133259.3:c.3290T>G NP_573566.2:p.Ile1097Ser
XM_006711915.2:c.3212T>G XP_006711978.1:p.Ile1071Ser
XM_011532473.1:c.3290T>G XP_011530775.1:p.Ile1097Ser
XM_011532474.1:c.3290T>G XP_011530776.1:p.Ile1097Ser
XM_017003117.1:c.3212T>G XP_016858606.1:p.Ile1071Ser
XR_002958896.1:n.3332T>G
NM_133259.4:c.3290T>G MANE Select NP_573566.2:p.Ile1097Ser