Canonical Allele Identifier: CA425908486
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44145210A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918071A>G , CM000664.2:g.43918071A>G GRCh38
NC_000002.11:g.44145210A>G , CM000664.1:g.44145210A>G GRCh37
NC_000002.10:g.43998714A>G NCBI36
NG_008247.1:g.82935T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.654T>C
ENST00000682295.1:c.303+185T>C ENSP00000507499.1:n.303+185T>C
ENST00000682303.1:c.*2888T>C ENSP00000508325.1:n.*2888T>C
ENST00000682308.1:c.3102T>C ENSP00000507056.1:p.Asp1034=
ENST00000682480.1:c.3120T>C ENSP00000508344.1:p.Asp1040=
ENST00000682546.1:c.3099T>C ENSP00000508188.1:p.Asp1033=
ENST00000682585.1:c.3102T>C ENSP00000506885.1:p.Asp1034=
ENST00000682595.1:n.3686T>C
ENST00000682607.1:c.1520T>C
ENST00000682779.1:c.3093T>C ENSP00000507947.1:p.Asp1031=
ENST00000682845.1:n.2204T>C
ENST00000682885.1:c.3057T>C ENSP00000508036.1:p.Asp1019=
ENST00000682933.1:n.3176T>C
ENST00000683072.1:n.3686T>C
ENST00000683080.1:n.721T>C
ENST00000683125.1:c.3210T>C ENSP00000507939.1:p.Asp1070=
ENST00000683213.1:c.3105T>C ENSP00000507751.1:p.Asp1035=
ENST00000683220.1:c.3132T>C ENSP00000507151.1:p.Asp1044=
ENST00000683329.1:n.3905T>C
ENST00000683346.1:c.*2977T>C ENSP00000507458.1:n.*2977T>C
ENST00000683409.1:n.1709T>C
ENST00000683459.1:n.3689T>C
ENST00000683590.1:c.2897-5513T>C ENSP00000506820.1:n.2897-5513T>C
ENST00000683623.1:c.3009T>C ENSP00000507702.1:p.Asp1003=
ENST00000683645.1:n.3653T>C
ENST00000683796.1:c.*2974T>C ENSP00000508221.1:n.*2974T>C
ENST00000683802.1:n.6027T>C
ENST00000683833.1:c.3093T>C ENSP00000506852.1:p.Asp1031=
ENST00000683994.1:c.3102T>C ENSP00000507181.1:p.Asp1034=
ENST00000684290.1:c.*638T>C ENSP00000507243.1:n.*638T>C
ENST00000684306.1:c.*3015T>C ENSP00000508384.1:n.*3015T>C
ENST00000684341.1:n.3122T>C
ENST00000684383.1:c.*2740T>C ENSP00000506863.1:n.*2740T>C
ENST00000684619.1:c.*2974T>C ENSP00000508088.1:n.*2974T>C
ENST00000684705.1:n.223T>C
ENST00000684743.1:n.4133T>C
ENST00000260665.12:c.3102T>C MANE Select ENSP00000260665.7:p.Asp1034=
ENST00000260665.11:c.3102T>C ENSP00000260665.7:p.Asp1034=
NM_133259.3:c.3102T>C NP_573566.2:p.Asp1034=
XM_006711915.2:c.3024T>C XP_006711978.1:p.Asp1008=
XM_006711916.2:c.3102T>C XP_006711979.1:p.Asp1034=
XM_011532473.1:c.3102T>C XP_011530775.1:p.Asp1034=
XM_011532474.1:c.3102T>C XP_011530776.1:p.Asp1034=
XM_006711916.3:c.3102T>C XP_006711979.1:p.Asp1034=
XM_017003117.1:c.3024T>C XP_016858606.1:p.Asp1008=
XR_002958896.1:n.3144T>C
NM_133259.4:c.3102T>C MANE Select NP_573566.2:p.Asp1034=