Canonical Allele Identifier: CA425909268
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44126400A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899261A>T , CM000664.2:g.43899261A>T GRCh38
NC_000002.11:g.44126400A>T , CM000664.1:g.44126400A>T GRCh37
NC_000002.10:g.43979904A>T NCBI36
NG_008247.1:g.101745T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.214T>A
ENST00000472420.6:n.862T>A
ENST00000483489.2:n.214T>A
ENST00000681993.1:n.1335T>A
ENST00000682303.1:c.*3569T>A ENSP00000508325.1:n.*3569T>A
ENST00000682308.1:c.3783T>A ENSP00000507056.1:p.Leu1261=
ENST00000682434.1:n.1334T>A
ENST00000682480.1:c.3801T>A ENSP00000508344.1:p.Leu1267=
ENST00000682546.1:c.3780T>A ENSP00000508188.1:p.Leu1260=
ENST00000682585.1:c.3783T>A ENSP00000506885.1:p.Leu1261=
ENST00000682595.1:n.4367T>A
ENST00000682607.1:c.2201T>A
ENST00000682612.1:c.635T>A
ENST00000682779.1:c.3774T>A ENSP00000507947.1:p.Leu1258=
ENST00000682845.1:n.2885T>A
ENST00000682885.1:c.3738T>A ENSP00000508036.1:p.Leu1246=
ENST00000682933.1:n.3857T>A
ENST00000683002.1:c.635T>A
ENST00000683072.1:n.4367T>A
ENST00000683080.1:n.1402T>A
ENST00000683125.1:c.3891T>A ENSP00000507939.1:p.Leu1297=
ENST00000683213.1:c.3786T>A ENSP00000507751.1:p.Leu1262=
ENST00000683220.1:c.3813T>A ENSP00000507151.1:p.Leu1271=
ENST00000683329.1:n.4586T>A
ENST00000683346.1:c.*3658T>A ENSP00000507458.1:n.*3658T>A
ENST00000683409.1:n.2390T>A
ENST00000683459.1:n.4370T>A
ENST00000683528.1:c.711T>A
ENST00000683590.1:c.3531T>A ENSP00000506820.1:p.Leu1177=
ENST00000683623.1:c.3690T>A ENSP00000507702.1:p.Leu1230=
ENST00000683645.1:n.4334T>A
ENST00000683796.1:c.*3655T>A ENSP00000508221.1:n.*3655T>A
ENST00000683802.1:n.6708T>A
ENST00000683833.1:c.3774T>A ENSP00000506852.1:p.Leu1258=
ENST00000683994.1:c.3783T>A ENSP00000507181.1:p.Leu1261=
ENST00000684290.1:c.*1319T>A ENSP00000507243.1:n.*1319T>A
ENST00000684306.1:c.*3696T>A ENSP00000508384.1:n.*3696T>A
ENST00000684341.1:n.3803T>A
ENST00000684383.1:c.*3421T>A ENSP00000506863.1:n.*3421T>A
ENST00000684418.1:n.4964T>A
ENST00000684433.1:n.167T>A
ENST00000684454.1:n.3133T>A
ENST00000684619.1:c.*3655T>A ENSP00000508088.1:n.*3655T>A
ENST00000684743.1:n.6528T>A
ENST00000260665.12:c.3783T>A MANE Select ENSP00000260665.7:p.Leu1261=
ENST00000260665.11:c.3783T>A ENSP00000260665.7:p.Leu1261=
ENST00000419884.5:c.24T>A ENSP00000414207.1:p.Leu8=
ENST00000463456.5:n.2826T>A
ENST00000472420.5:n.180T>A
ENST00000483489.1:n.257T>A
NM_133259.3:c.3783T>A NP_573566.2:p.Leu1261=
XM_006711915.2:c.3705T>A XP_006711978.1:p.Leu1235=
XM_011532473.1:c.3783T>A XP_011530775.1:p.Leu1261=
XM_011532474.1:c.3783T>A XP_011530776.1:p.Leu1261=
XM_017003117.1:c.3705T>A XP_016858606.1:p.Leu1235=
XR_002958896.1:n.3825T>A
NM_133259.4:c.3783T>A MANE Select NP_573566.2:p.Leu1261=