Canonical Allele Identifier: CA425908561
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44145413A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918274A>C , CM000664.2:g.43918274A>C GRCh38
NC_000002.11:g.44145413A>C , CM000664.1:g.44145413A>C GRCh37
NC_000002.10:g.43998917A>C NCBI36
NG_008247.1:g.82732T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.573T>G
ENST00000682295.1:c.285T>G ENSP00000507499.1:p.Val95=
ENST00000682303.1:c.*2807T>G ENSP00000508325.1:n.*2807T>G
ENST00000682308.1:c.3021T>G ENSP00000507056.1:p.Val1007=
ENST00000682480.1:c.3021T>G ENSP00000508344.1:p.Val1007=
ENST00000682546.1:c.3018T>G ENSP00000508188.1:p.Val1006=
ENST00000682585.1:c.3021T>G ENSP00000506885.1:p.Val1007=
ENST00000682595.1:n.3605T>G
ENST00000682607.1:c.1439T>G
ENST00000682779.1:c.3012T>G ENSP00000507947.1:p.Val1004=
ENST00000682845.1:n.2123T>G
ENST00000682885.1:c.2976T>G ENSP00000508036.1:p.Val992=
ENST00000682933.1:n.3095T>G
ENST00000683072.1:n.3605T>G
ENST00000683080.1:n.640T>G
ENST00000683125.1:c.3129T>G ENSP00000507939.1:p.Val1043=
ENST00000683213.1:c.3024T>G ENSP00000507751.1:p.Val1008=
ENST00000683220.1:c.3051T>G ENSP00000507151.1:p.Val1017=
ENST00000683236.1:c.351T>G ENSP00000506891.1:n.351T>G
ENST00000683329.1:n.3824T>G
ENST00000683346.1:c.*2896T>G ENSP00000507458.1:n.*2896T>G
ENST00000683409.1:n.1628T>G
ENST00000683459.1:n.3608T>G
ENST00000683590.1:c.2897-5716T>G ENSP00000506820.1:n.2897-5716T>G
ENST00000683623.1:c.2928T>G ENSP00000507702.1:p.Val976=
ENST00000683645.1:n.3572T>G
ENST00000683796.1:c.*2893T>G ENSP00000508221.1:n.*2893T>G
ENST00000683802.1:n.5946T>G
ENST00000683833.1:c.3012T>G ENSP00000506852.1:p.Val1004=
ENST00000683994.1:c.3021T>G ENSP00000507181.1:p.Val1007=
ENST00000684290.1:c.*557T>G ENSP00000507243.1:n.*557T>G
ENST00000684306.1:c.*2934T>G ENSP00000508384.1:n.*2934T>G
ENST00000684341.1:n.3041T>G
ENST00000684383.1:c.*2659T>G ENSP00000506863.1:n.*2659T>G
ENST00000684619.1:c.*2893T>G ENSP00000508088.1:n.*2893T>G
ENST00000684705.1:n.142T>G
ENST00000684743.1:n.4052T>G
ENST00000260665.12:c.3021T>G MANE Select ENSP00000260665.7:p.Val1007=
ENST00000260665.11:c.3021T>G ENSP00000260665.7:p.Val1007=
NM_133259.3:c.3021T>G NP_573566.2:p.Val1007=
XM_006711915.2:c.2943T>G XP_006711978.1:p.Val981=
XM_006711916.2:c.3021T>G XP_006711979.1:p.Val1007=
XM_011532473.1:c.3021T>G XP_011530775.1:p.Val1007=
XM_011532474.1:c.3021T>G XP_011530776.1:p.Val1007=
XM_006711916.3:c.3021T>G XP_006711979.1:p.Val1007=
XM_017003117.1:c.2943T>G XP_016858606.1:p.Val981=
XR_002958896.1:n.3063T>G
NM_133259.4:c.3021T>G MANE Select NP_573566.2:p.Val1007=