Canonical Allele Identifier: CA425908513
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44145231T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918092T>G , CM000664.2:g.43918092T>G GRCh38
NC_000002.11:g.44145231T>G , CM000664.1:g.44145231T>G GRCh37
NC_000002.10:g.43998735T>G NCBI36
NG_008247.1:g.82914A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.633A>C
ENST00000682295.1:c.303+164A>C ENSP00000507499.1:n.303+164A>C
ENST00000682303.1:c.*2867A>C ENSP00000508325.1:n.*2867A>C
ENST00000682308.1:c.3081A>C ENSP00000507056.1:p.Ser1027=
ENST00000682480.1:c.3099A>C ENSP00000508344.1:p.Ser1033=
ENST00000682546.1:c.3078A>C ENSP00000508188.1:p.Ser1026=
ENST00000682585.1:c.3081A>C ENSP00000506885.1:p.Ser1027=
ENST00000682595.1:n.3665A>C
ENST00000682607.1:c.1499A>C
ENST00000682779.1:c.3072A>C ENSP00000507947.1:p.Ser1024=
ENST00000682845.1:n.2183A>C
ENST00000682885.1:c.3036A>C ENSP00000508036.1:p.Ser1012=
ENST00000682933.1:n.3155A>C
ENST00000683072.1:n.3665A>C
ENST00000683080.1:n.700A>C
ENST00000683125.1:c.3189A>C ENSP00000507939.1:p.Ser1063=
ENST00000683213.1:c.3084A>C ENSP00000507751.1:p.Ser1028=
ENST00000683220.1:c.3111A>C ENSP00000507151.1:p.Ser1037=
ENST00000683329.1:n.3884A>C
ENST00000683346.1:c.*2956A>C ENSP00000507458.1:n.*2956A>C
ENST00000683409.1:n.1688A>C
ENST00000683459.1:n.3668A>C
ENST00000683590.1:c.2897-5534A>C ENSP00000506820.1:n.2897-5534A>C
ENST00000683623.1:c.2988A>C ENSP00000507702.1:p.Ser996=
ENST00000683645.1:n.3632A>C
ENST00000683796.1:c.*2953A>C ENSP00000508221.1:n.*2953A>C
ENST00000683802.1:n.6006A>C
ENST00000683833.1:c.3072A>C ENSP00000506852.1:p.Ser1024=
ENST00000683994.1:c.3081A>C ENSP00000507181.1:p.Ser1027=
ENST00000684290.1:c.*617A>C ENSP00000507243.1:n.*617A>C
ENST00000684306.1:c.*2994A>C ENSP00000508384.1:n.*2994A>C
ENST00000684341.1:n.3101A>C
ENST00000684383.1:c.*2719A>C ENSP00000506863.1:n.*2719A>C
ENST00000684619.1:c.*2953A>C ENSP00000508088.1:n.*2953A>C
ENST00000684705.1:n.202A>C
ENST00000684743.1:n.4112A>C
ENST00000260665.12:c.3081A>C MANE Select ENSP00000260665.7:p.Ser1027=
ENST00000260665.11:c.3081A>C ENSP00000260665.7:p.Ser1027=
NM_133259.3:c.3081A>C NP_573566.2:p.Ser1027=
XM_006711915.2:c.3003A>C XP_006711978.1:p.Ser1001=
XM_006711916.2:c.3081A>C XP_006711979.1:p.Ser1027=
XM_011532473.1:c.3081A>C XP_011530775.1:p.Ser1027=
XM_011532474.1:c.3081A>C XP_011530776.1:p.Ser1027=
XM_006711916.3:c.3081A>C XP_006711979.1:p.Ser1027=
XM_017003117.1:c.3003A>C XP_016858606.1:p.Ser1001=
XR_002958896.1:n.3123A>C
NM_133259.4:c.3081A>C MANE Select NP_573566.2:p.Ser1027=