Canonical Allele Identifier: CA425909821
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44170953G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43943814G>A , CM000664.2:g.43943814G>A GRCh38
NC_000002.11:g.44170953G>A , CM000664.1:g.44170953G>A GRCh37
NC_000002.10:g.44024457G>A NCBI36
NG_008247.1:g.57192C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.2377C>T ENSP00000386562.2:p.Leu793=
ENST00000447246.2:c.2377C>T ENSP00000403637.2:p.Leu793=
ENST00000681961.1:n.2397C>T
ENST00000682104.1:c.2251C>T ENSP00000507716.1:p.Leu751=
ENST00000682303.1:c.*2163C>T ENSP00000508325.1:n.*2163C>T
ENST00000682308.1:c.2377C>T ENSP00000507056.1:p.Leu793=
ENST00000682480.1:c.2377C>T ENSP00000508344.1:p.Leu793=
ENST00000682546.1:c.2374C>T ENSP00000508188.1:p.Leu792=
ENST00000682585.1:c.2377C>T ENSP00000506885.1:p.Leu793=
ENST00000682595.1:n.2959C>T
ENST00000682607.1:c.795C>T
ENST00000682779.1:c.2368C>T ENSP00000507947.1:p.Leu790=
ENST00000682845.1:n.1479C>T
ENST00000682885.1:c.2332C>T ENSP00000508036.1:p.Leu778=
ENST00000682933.1:n.2451C>T
ENST00000683072.1:n.2959C>T
ENST00000683125.1:c.2377C>T ENSP00000507939.1:p.Leu793=
ENST00000683213.1:c.2380C>T ENSP00000507751.1:p.Leu794=
ENST00000683220.1:c.2407C>T ENSP00000507151.1:p.Leu803=
ENST00000683329.1:n.3180C>T
ENST00000683346.1:c.*2252C>T ENSP00000507458.1:n.*2252C>T
ENST00000683459.1:n.2964C>T
ENST00000683590.1:c.2377C>T ENSP00000506820.1:p.Leu793=
ENST00000683623.1:c.2297-13C>T ENSP00000507702.1:n.2297-13C>T
ENST00000683645.1:n.2928C>T
ENST00000683694.1:n.1128C>T
ENST00000683796.1:c.*2249C>T ENSP00000508221.1:n.*2249C>T
ENST00000683802.1:n.5302C>T
ENST00000683833.1:c.2368C>T ENSP00000506852.1:p.Leu790=
ENST00000683989.1:c.2377C>T ENSP00000507510.1:p.Leu793=
ENST00000683994.1:c.2377C>T ENSP00000507181.1:p.Leu793=
ENST00000684290.1:c.*71C>T ENSP00000507243.1:n.*71C>T
ENST00000684306.1:c.*2290C>T ENSP00000508384.1:n.*2290C>T
ENST00000684341.1:n.2397C>T
ENST00000684383.1:c.*2015C>T ENSP00000506863.1:n.*2015C>T
ENST00000684397.1:c.81C>T
ENST00000684619.1:c.*2249C>T ENSP00000508088.1:n.*2249C>T
ENST00000684743.1:n.3408C>T
ENST00000260665.12:c.2377C>T MANE Select ENSP00000260665.7:p.Leu793=
ENST00000260665.11:c.2377C>T ENSP00000260665.7:p.Leu793=
NM_133259.3:c.2377C>T NP_573566.2:p.Leu793=
XM_006711915.2:c.2299C>T XP_006711978.1:p.Leu767=
XM_006711916.2:c.2377C>T XP_006711979.1:p.Leu793=
XM_011532473.1:c.2377C>T XP_011530775.1:p.Leu793=
XM_011532474.1:c.2377C>T XP_011530776.1:p.Leu793=
XM_006711916.3:c.2377C>T XP_006711979.1:p.Leu793=
XM_017003117.1:c.2299C>T XP_016858606.1:p.Leu767=
XR_002958896.1:n.2419C>T
NM_133259.4:c.2377C>T MANE Select NP_573566.2:p.Leu793=