Canonical Allele Identifier: CA425909288
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44126430A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899291A>G , CM000664.2:g.43899291A>G GRCh38
NC_000002.11:g.44126430A>G , CM000664.1:g.44126430A>G GRCh37
NC_000002.10:g.43979934A>G NCBI36
NG_008247.1:g.101715T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.184T>C
ENST00000472420.6:n.832T>C
ENST00000483489.2:n.184T>C
ENST00000681993.1:n.1305T>C
ENST00000682303.1:c.*3539T>C ENSP00000508325.1:n.*3539T>C
ENST00000682308.1:c.3753T>C ENSP00000507056.1:p.Tyr1251=
ENST00000682434.1:n.1304T>C
ENST00000682480.1:c.3771T>C ENSP00000508344.1:p.Tyr1257=
ENST00000682546.1:c.3750T>C ENSP00000508188.1:p.Tyr1250=
ENST00000682585.1:c.3753T>C ENSP00000506885.1:p.Tyr1251=
ENST00000682595.1:n.4337T>C
ENST00000682607.1:c.2171T>C
ENST00000682612.1:c.605T>C
ENST00000682779.1:c.3744T>C ENSP00000507947.1:p.Tyr1248=
ENST00000682845.1:n.2855T>C
ENST00000682885.1:c.3708T>C ENSP00000508036.1:p.Tyr1236=
ENST00000682933.1:n.3827T>C
ENST00000683002.1:c.605T>C
ENST00000683072.1:n.4337T>C
ENST00000683080.1:n.1372T>C
ENST00000683125.1:c.3861T>C ENSP00000507939.1:p.Tyr1287=
ENST00000683213.1:c.3756T>C ENSP00000507751.1:p.Tyr1252=
ENST00000683220.1:c.3783T>C ENSP00000507151.1:p.Tyr1261=
ENST00000683329.1:n.4556T>C
ENST00000683346.1:c.*3628T>C ENSP00000507458.1:n.*3628T>C
ENST00000683409.1:n.2360T>C
ENST00000683459.1:n.4340T>C
ENST00000683528.1:c.681T>C
ENST00000683590.1:c.3501T>C ENSP00000506820.1:p.Tyr1167=
ENST00000683623.1:c.3660T>C ENSP00000507702.1:p.Tyr1220=
ENST00000683645.1:n.4304T>C
ENST00000683796.1:c.*3625T>C ENSP00000508221.1:n.*3625T>C
ENST00000683802.1:n.6678T>C
ENST00000683833.1:c.3744T>C ENSP00000506852.1:p.Tyr1248=
ENST00000683994.1:c.3753T>C ENSP00000507181.1:p.Tyr1251=
ENST00000684290.1:c.*1289T>C ENSP00000507243.1:n.*1289T>C
ENST00000684306.1:c.*3666T>C ENSP00000508384.1:n.*3666T>C
ENST00000684341.1:n.3773T>C
ENST00000684383.1:c.*3391T>C ENSP00000506863.1:n.*3391T>C
ENST00000684418.1:n.4934T>C
ENST00000684433.1:n.137T>C
ENST00000684454.1:n.3103T>C
ENST00000684619.1:c.*3625T>C ENSP00000508088.1:n.*3625T>C
ENST00000684743.1:n.6498T>C
ENST00000260665.12:c.3753T>C MANE Select ENSP00000260665.7:p.Tyr1251=
ENST00000260665.11:c.3753T>C ENSP00000260665.7:p.Tyr1251=
ENST00000463456.5:n.2796T>C
ENST00000472420.5:n.150T>C
ENST00000483489.1:n.227T>C
NM_133259.3:c.3753T>C NP_573566.2:p.Tyr1251=
XM_006711915.2:c.3675T>C XP_006711978.1:p.Tyr1225=
XM_011532473.1:c.3753T>C XP_011530775.1:p.Tyr1251=
XM_011532474.1:c.3753T>C XP_011530776.1:p.Tyr1251=
XM_017003117.1:c.3675T>C XP_016858606.1:p.Tyr1225=
XR_002958896.1:n.3795T>C
NM_133259.4:c.3753T>C MANE Select NP_573566.2:p.Tyr1251=