Canonical Allele Identifier: CA425908653
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44145512A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918373A>G , CM000664.2:g.43918373A>G GRCh38
NC_000002.11:g.44145512A>G , CM000664.1:g.44145512A>G GRCh37
NC_000002.10:g.43999016A>G NCBI36
NG_008247.1:g.82633T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.474T>C
ENST00000682295.1:c.186T>C ENSP00000507499.1:p.Ala62=
ENST00000682303.1:c.*2708T>C ENSP00000508325.1:n.*2708T>C
ENST00000682308.1:c.2922T>C ENSP00000507056.1:p.Ala974=
ENST00000682480.1:c.2922T>C ENSP00000508344.1:p.Ala974=
ENST00000682546.1:c.2919T>C ENSP00000508188.1:p.Ala973=
ENST00000682585.1:c.2922T>C ENSP00000506885.1:p.Ala974=
ENST00000682595.1:n.3506T>C
ENST00000682607.1:c.1340T>C
ENST00000682779.1:c.2913T>C ENSP00000507947.1:p.Ala971=
ENST00000682845.1:n.2024T>C
ENST00000682885.1:c.2877T>C ENSP00000508036.1:p.Ala959=
ENST00000682933.1:n.2996T>C
ENST00000683072.1:n.3506T>C
ENST00000683080.1:n.541T>C
ENST00000683125.1:c.3030T>C ENSP00000507939.1:p.Ala1010=
ENST00000683213.1:c.2925T>C ENSP00000507751.1:p.Ala975=
ENST00000683220.1:c.2952T>C ENSP00000507151.1:p.Ala984=
ENST00000683236.1:c.252T>C ENSP00000506891.1:n.252T>C
ENST00000683329.1:n.3725T>C
ENST00000683346.1:c.*2797T>C ENSP00000507458.1:n.*2797T>C
ENST00000683409.1:n.1529T>C
ENST00000683459.1:n.3509T>C
ENST00000683590.1:c.2897-5815T>C ENSP00000506820.1:n.2897-5815T>C
ENST00000683623.1:c.2829T>C ENSP00000507702.1:p.Ala943=
ENST00000683645.1:n.3473T>C
ENST00000683796.1:c.*2794T>C ENSP00000508221.1:n.*2794T>C
ENST00000683802.1:n.5847T>C
ENST00000683833.1:c.2913T>C ENSP00000506852.1:p.Ala971=
ENST00000683994.1:c.2922T>C ENSP00000507181.1:p.Ala974=
ENST00000684290.1:c.*458T>C ENSP00000507243.1:n.*458T>C
ENST00000684306.1:c.*2835T>C ENSP00000508384.1:n.*2835T>C
ENST00000684341.1:n.2942T>C
ENST00000684383.1:c.*2560T>C ENSP00000506863.1:n.*2560T>C
ENST00000684619.1:c.*2794T>C ENSP00000508088.1:n.*2794T>C
ENST00000684705.1:n.43T>C
ENST00000684743.1:n.3953T>C
ENST00000260665.12:c.2922T>C MANE Select ENSP00000260665.7:p.Ala974=
ENST00000260665.11:c.2922T>C ENSP00000260665.7:p.Ala974=
NM_133259.3:c.2922T>C NP_573566.2:p.Ala974=
XM_006711915.2:c.2844T>C XP_006711978.1:p.Ala948=
XM_006711916.2:c.2922T>C XP_006711979.1:p.Ala974=
XM_011532473.1:c.2922T>C XP_011530775.1:p.Ala974=
XM_011532474.1:c.2922T>C XP_011530776.1:p.Ala974=
XM_006711916.3:c.2922T>C XP_006711979.1:p.Ala974=
XM_017003117.1:c.2844T>C XP_016858606.1:p.Ala948=
XR_002958896.1:n.2964T>C
NM_133259.4:c.2922T>C MANE Select NP_573566.2:p.Ala974=