Canonical Allele Identifier: CA425909287
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44126427T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899288T>C , CM000664.2:g.43899288T>C GRCh38
NC_000002.11:g.44126427T>C , CM000664.1:g.44126427T>C GRCh37
NC_000002.10:g.43979931T>C NCBI36
NG_008247.1:g.101718A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.187A>G
ENST00000472420.6:n.835A>G
ENST00000483489.2:n.187A>G
ENST00000681993.1:n.1308A>G
ENST00000682303.1:c.*3542A>G ENSP00000508325.1:n.*3542A>G
ENST00000682308.1:c.3756A>G ENSP00000507056.1:p.Lys1252=
ENST00000682434.1:n.1307A>G
ENST00000682480.1:c.3774A>G ENSP00000508344.1:p.Lys1258=
ENST00000682546.1:c.3753A>G ENSP00000508188.1:p.Lys1251=
ENST00000682585.1:c.3756A>G ENSP00000506885.1:p.Lys1252=
ENST00000682595.1:n.4340A>G
ENST00000682607.1:c.2174A>G
ENST00000682612.1:c.608A>G
ENST00000682779.1:c.3747A>G ENSP00000507947.1:p.Lys1249=
ENST00000682845.1:n.2858A>G
ENST00000682885.1:c.3711A>G ENSP00000508036.1:p.Lys1237=
ENST00000682933.1:n.3830A>G
ENST00000683002.1:c.608A>G
ENST00000683072.1:n.4340A>G
ENST00000683080.1:n.1375A>G
ENST00000683125.1:c.3864A>G ENSP00000507939.1:p.Lys1288=
ENST00000683213.1:c.3759A>G ENSP00000507751.1:p.Lys1253=
ENST00000683220.1:c.3786A>G ENSP00000507151.1:p.Lys1262=
ENST00000683329.1:n.4559A>G
ENST00000683346.1:c.*3631A>G ENSP00000507458.1:n.*3631A>G
ENST00000683409.1:n.2363A>G
ENST00000683459.1:n.4343A>G
ENST00000683528.1:c.684A>G
ENST00000683590.1:c.3504A>G ENSP00000506820.1:p.Lys1168=
ENST00000683623.1:c.3663A>G ENSP00000507702.1:p.Lys1221=
ENST00000683645.1:n.4307A>G
ENST00000683796.1:c.*3628A>G ENSP00000508221.1:n.*3628A>G
ENST00000683802.1:n.6681A>G
ENST00000683833.1:c.3747A>G ENSP00000506852.1:p.Lys1249=
ENST00000683994.1:c.3756A>G ENSP00000507181.1:p.Lys1252=
ENST00000684290.1:c.*1292A>G ENSP00000507243.1:n.*1292A>G
ENST00000684306.1:c.*3669A>G ENSP00000508384.1:n.*3669A>G
ENST00000684341.1:n.3776A>G
ENST00000684383.1:c.*3394A>G ENSP00000506863.1:n.*3394A>G
ENST00000684418.1:n.4937A>G
ENST00000684433.1:n.140A>G
ENST00000684454.1:n.3106A>G
ENST00000684619.1:c.*3628A>G ENSP00000508088.1:n.*3628A>G
ENST00000684743.1:n.6501A>G
ENST00000260665.12:c.3756A>G MANE Select ENSP00000260665.7:p.Lys1252=
ENST00000260665.11:c.3756A>G ENSP00000260665.7:p.Lys1252=
ENST00000463456.5:n.2799A>G
ENST00000472420.5:n.153A>G
ENST00000483489.1:n.230A>G
NM_133259.3:c.3756A>G NP_573566.2:p.Lys1252=
XM_006711915.2:c.3678A>G XP_006711978.1:p.Lys1226=
XM_011532473.1:c.3756A>G XP_011530775.1:p.Lys1252=
XM_011532474.1:c.3756A>G XP_011530776.1:p.Lys1252=
XM_017003117.1:c.3678A>G XP_016858606.1:p.Lys1226=
XR_002958896.1:n.3798A>G
NM_133259.4:c.3756A>G MANE Select NP_573566.2:p.Lys1252=