Canonical Allele Identifier: CA425908539
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44145252T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918113T>C , CM000664.2:g.43918113T>C GRCh38
NC_000002.11:g.44145252T>C , CM000664.1:g.44145252T>C GRCh37
NC_000002.10:g.43998756T>C NCBI36
NG_008247.1:g.82893A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.612A>G
ENST00000682295.1:c.303+143A>G ENSP00000507499.1:n.303+143A>G
ENST00000682303.1:c.*2846A>G ENSP00000508325.1:n.*2846A>G
ENST00000682308.1:c.3060A>G ENSP00000507056.1:p.Lys1020=
ENST00000682480.1:c.3078A>G ENSP00000508344.1:p.Lys1026=
ENST00000682546.1:c.3057A>G ENSP00000508188.1:p.Lys1019=
ENST00000682585.1:c.3060A>G ENSP00000506885.1:p.Lys1020=
ENST00000682595.1:n.3644A>G
ENST00000682607.1:c.1478A>G
ENST00000682779.1:c.3051A>G ENSP00000507947.1:p.Lys1017=
ENST00000682845.1:n.2162A>G
ENST00000682885.1:c.3015A>G ENSP00000508036.1:p.Lys1005=
ENST00000682933.1:n.3134A>G
ENST00000683072.1:n.3644A>G
ENST00000683080.1:n.679A>G
ENST00000683125.1:c.3168A>G ENSP00000507939.1:p.Lys1056=
ENST00000683213.1:c.3063A>G ENSP00000507751.1:p.Lys1021=
ENST00000683220.1:c.3090A>G ENSP00000507151.1:p.Lys1030=
ENST00000683329.1:n.3863A>G
ENST00000683346.1:c.*2935A>G ENSP00000507458.1:n.*2935A>G
ENST00000683409.1:n.1667A>G
ENST00000683459.1:n.3647A>G
ENST00000683590.1:c.2897-5555A>G ENSP00000506820.1:n.2897-5555A>G
ENST00000683623.1:c.2967A>G ENSP00000507702.1:p.Lys989=
ENST00000683645.1:n.3611A>G
ENST00000683796.1:c.*2932A>G ENSP00000508221.1:n.*2932A>G
ENST00000683802.1:n.5985A>G
ENST00000683833.1:c.3051A>G ENSP00000506852.1:p.Lys1017=
ENST00000683994.1:c.3060A>G ENSP00000507181.1:p.Lys1020=
ENST00000684290.1:c.*596A>G ENSP00000507243.1:n.*596A>G
ENST00000684306.1:c.*2973A>G ENSP00000508384.1:n.*2973A>G
ENST00000684341.1:n.3080A>G
ENST00000684383.1:c.*2698A>G ENSP00000506863.1:n.*2698A>G
ENST00000684619.1:c.*2932A>G ENSP00000508088.1:n.*2932A>G
ENST00000684705.1:n.181A>G
ENST00000684743.1:n.4091A>G
ENST00000260665.12:c.3060A>G MANE Select ENSP00000260665.7:p.Lys1020=
ENST00000260665.11:c.3060A>G ENSP00000260665.7:p.Lys1020=
NM_133259.3:c.3060A>G NP_573566.2:p.Lys1020=
XM_006711915.2:c.2982A>G XP_006711978.1:p.Lys994=
XM_006711916.2:c.3060A>G XP_006711979.1:p.Lys1020=
XM_011532473.1:c.3060A>G XP_011530775.1:p.Lys1020=
XM_011532474.1:c.3060A>G XP_011530776.1:p.Lys1020=
XM_006711916.3:c.3060A>G XP_006711979.1:p.Lys1020=
XM_017003117.1:c.2982A>G XP_016858606.1:p.Lys994=
XR_002958896.1:n.3102A>G
NM_133259.4:c.3060A>G MANE Select NP_573566.2:p.Lys1020=