Canonical Allele Identifier: CA425909290
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44126436T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899297T>A , CM000664.2:g.43899297T>A GRCh38
NC_000002.11:g.44126436T>A , CM000664.1:g.44126436T>A GRCh37
NC_000002.10:g.43979940T>A NCBI36
NG_008247.1:g.101709A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.178A>T
ENST00000472420.6:n.826A>T
ENST00000483489.2:n.178A>T
ENST00000681993.1:n.1299A>T
ENST00000682303.1:c.*3533A>T ENSP00000508325.1:n.*3533A>T
ENST00000682308.1:c.3747A>T ENSP00000507056.1:p.Ala1249=
ENST00000682434.1:n.1298A>T
ENST00000682480.1:c.3765A>T ENSP00000508344.1:p.Ala1255=
ENST00000682546.1:c.3744A>T ENSP00000508188.1:p.Ala1248=
ENST00000682585.1:c.3747A>T ENSP00000506885.1:p.Ala1249=
ENST00000682595.1:n.4331A>T
ENST00000682607.1:c.2165A>T
ENST00000682612.1:c.599A>T
ENST00000682779.1:c.3738A>T ENSP00000507947.1:p.Ala1246=
ENST00000682845.1:n.2849A>T
ENST00000682885.1:c.3702A>T ENSP00000508036.1:p.Ala1234=
ENST00000682933.1:n.3821A>T
ENST00000683002.1:c.599A>T
ENST00000683072.1:n.4331A>T
ENST00000683080.1:n.1366A>T
ENST00000683125.1:c.3855A>T ENSP00000507939.1:p.Ala1285=
ENST00000683213.1:c.3750A>T ENSP00000507751.1:p.Ala1250=
ENST00000683220.1:c.3777A>T ENSP00000507151.1:p.Ala1259=
ENST00000683329.1:n.4550A>T
ENST00000683346.1:c.*3622A>T ENSP00000507458.1:n.*3622A>T
ENST00000683409.1:n.2354A>T
ENST00000683459.1:n.4334A>T
ENST00000683528.1:c.675A>T
ENST00000683590.1:c.3495A>T ENSP00000506820.1:p.Ala1165=
ENST00000683623.1:c.3654A>T ENSP00000507702.1:p.Ala1218=
ENST00000683645.1:n.4298A>T
ENST00000683796.1:c.*3619A>T ENSP00000508221.1:n.*3619A>T
ENST00000683802.1:n.6672A>T
ENST00000683833.1:c.3738A>T ENSP00000506852.1:p.Ala1246=
ENST00000683994.1:c.3747A>T ENSP00000507181.1:p.Ala1249=
ENST00000684290.1:c.*1283A>T ENSP00000507243.1:n.*1283A>T
ENST00000684306.1:c.*3660A>T ENSP00000508384.1:n.*3660A>T
ENST00000684341.1:n.3767A>T
ENST00000684383.1:c.*3385A>T ENSP00000506863.1:n.*3385A>T
ENST00000684418.1:n.4928A>T
ENST00000684433.1:n.131A>T
ENST00000684454.1:n.3097A>T
ENST00000684619.1:c.*3619A>T ENSP00000508088.1:n.*3619A>T
ENST00000684743.1:n.6492A>T
ENST00000260665.12:c.3747A>T MANE Select ENSP00000260665.7:p.Ala1249=
ENST00000260665.11:c.3747A>T ENSP00000260665.7:p.Ala1249=
ENST00000463456.5:n.2790A>T
ENST00000472420.5:n.144A>T
ENST00000483489.1:n.221A>T
NM_133259.3:c.3747A>T NP_573566.2:p.Ala1249=
XM_006711915.2:c.3669A>T XP_006711978.1:p.Ala1223=
XM_011532473.1:c.3747A>T XP_011530775.1:p.Ala1249=
XM_011532474.1:c.3747A>T XP_011530776.1:p.Ala1249=
XM_017003117.1:c.3669A>T XP_016858606.1:p.Ala1223=
XR_002958896.1:n.3789A>T
NM_133259.4:c.3747A>T MANE Select NP_573566.2:p.Ala1249=