Canonical Allele Identifier: CA425909296
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44126451C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899312C>T , CM000664.2:g.43899312C>T GRCh38
NC_000002.11:g.44126451C>T , CM000664.1:g.44126451C>T GRCh37
NC_000002.10:g.43979955C>T NCBI36
NG_008247.1:g.101694G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.163G>A
ENST00000472420.6:n.811G>A
ENST00000483489.2:n.163G>A
ENST00000681993.1:n.1284G>A
ENST00000682303.1:c.*3518G>A ENSP00000508325.1:n.*3518G>A
ENST00000682308.1:c.3732G>A ENSP00000507056.1:p.Leu1244=
ENST00000682434.1:n.1283G>A
ENST00000682480.1:c.3750G>A ENSP00000508344.1:p.Leu1250=
ENST00000682546.1:c.3729G>A ENSP00000508188.1:p.Leu1243=
ENST00000682585.1:c.3732G>A ENSP00000506885.1:p.Leu1244=
ENST00000682595.1:n.4316G>A
ENST00000682607.1:c.2150G>A
ENST00000682612.1:c.584G>A
ENST00000682779.1:c.3723G>A ENSP00000507947.1:p.Leu1241=
ENST00000682845.1:n.2834G>A
ENST00000682885.1:c.3687G>A ENSP00000508036.1:p.Leu1229=
ENST00000682933.1:n.3806G>A
ENST00000683002.1:c.584G>A
ENST00000683072.1:n.4316G>A
ENST00000683080.1:n.1351G>A
ENST00000683125.1:c.3840G>A ENSP00000507939.1:p.Leu1280=
ENST00000683213.1:c.3735G>A ENSP00000507751.1:p.Leu1245=
ENST00000683220.1:c.3762G>A ENSP00000507151.1:p.Leu1254=
ENST00000683329.1:n.4535G>A
ENST00000683346.1:c.*3607G>A ENSP00000507458.1:n.*3607G>A
ENST00000683409.1:n.2339G>A
ENST00000683459.1:n.4319G>A
ENST00000683528.1:c.660G>A
ENST00000683590.1:c.3480G>A ENSP00000506820.1:p.Leu1160=
ENST00000683623.1:c.3639G>A ENSP00000507702.1:p.Leu1213=
ENST00000683645.1:n.4283G>A
ENST00000683796.1:c.*3604G>A ENSP00000508221.1:n.*3604G>A
ENST00000683802.1:n.6657G>A
ENST00000683833.1:c.3723G>A ENSP00000506852.1:p.Leu1241=
ENST00000683994.1:c.3732G>A ENSP00000507181.1:p.Leu1244=
ENST00000684290.1:c.*1268G>A ENSP00000507243.1:n.*1268G>A
ENST00000684306.1:c.*3645G>A ENSP00000508384.1:n.*3645G>A
ENST00000684341.1:n.3752G>A
ENST00000684383.1:c.*3370G>A ENSP00000506863.1:n.*3370G>A
ENST00000684418.1:n.4913G>A
ENST00000684433.1:n.116G>A
ENST00000684454.1:n.3082G>A
ENST00000684619.1:c.*3604G>A ENSP00000508088.1:n.*3604G>A
ENST00000684743.1:n.6477G>A
ENST00000260665.12:c.3732G>A MANE Select ENSP00000260665.7:p.Leu1244=
ENST00000260665.11:c.3732G>A ENSP00000260665.7:p.Leu1244=
ENST00000463456.5:n.2775G>A
ENST00000472420.5:n.129G>A
ENST00000483489.1:n.206G>A
NM_133259.3:c.3732G>A NP_573566.2:p.Leu1244=
XM_006711915.2:c.3654G>A XP_006711978.1:p.Leu1218=
XM_011532473.1:c.3732G>A XP_011530775.1:p.Leu1244=
XM_011532474.1:c.3732G>A XP_011530776.1:p.Leu1244=
XM_017003117.1:c.3654G>A XP_016858606.1:p.Leu1218=
XR_002958896.1:n.3774G>A
NM_133259.4:c.3732G>A MANE Select NP_573566.2:p.Leu1244=