Canonical Allele Identifier: CA425909855
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43943887-A-G
MyVariant Identifiers: chr2:g.44171026A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43943887A>G , CM000664.2:g.43943887A>G GRCh38
NC_000002.11:g.44171026A>G , CM000664.1:g.44171026A>G GRCh37
NC_000002.10:g.44024530A>G NCBI36
NG_008247.1:g.57119T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.2304T>C ENSP00000386562.2:p.Ile768=
ENST00000447246.2:c.2304T>C ENSP00000403637.2:p.Ile768=
ENST00000681961.1:n.2324T>C
ENST00000682104.1:c.2178T>C ENSP00000507716.1:p.Ile726=
ENST00000682303.1:c.*2090T>C ENSP00000508325.1:n.*2090T>C
ENST00000682308.1:c.2304T>C ENSP00000507056.1:p.Ile768=
ENST00000682480.1:c.2304T>C ENSP00000508344.1:p.Ile768=
ENST00000682546.1:c.2301T>C ENSP00000508188.1:p.Ile767=
ENST00000682585.1:c.2304T>C ENSP00000506885.1:p.Ile768=
ENST00000682595.1:n.2886T>C
ENST00000682607.1:c.722T>C
ENST00000682779.1:c.2295T>C ENSP00000507947.1:p.Ile765=
ENST00000682845.1:n.1406T>C
ENST00000682885.1:c.2259T>C ENSP00000508036.1:p.Ile753=
ENST00000682933.1:n.2378T>C
ENST00000683072.1:n.2886T>C
ENST00000683125.1:c.2304T>C ENSP00000507939.1:p.Ile768=
ENST00000683213.1:c.2307T>C ENSP00000507751.1:p.Ile769=
ENST00000683220.1:c.2334T>C ENSP00000507151.1:p.Ile778=
ENST00000683329.1:n.3107T>C
ENST00000683346.1:c.*2179T>C ENSP00000507458.1:n.*2179T>C
ENST00000683459.1:n.2891T>C
ENST00000683590.1:c.2304T>C ENSP00000506820.1:p.Ile768=
ENST00000683623.1:c.2297-86T>C ENSP00000507702.1:n.2297-86T>C
ENST00000683645.1:n.2855T>C
ENST00000683694.1:n.1055T>C
ENST00000683796.1:c.*2176T>C ENSP00000508221.1:n.*2176T>C
ENST00000683802.1:n.5229T>C
ENST00000683833.1:c.2295T>C ENSP00000506852.1:p.Ile765=
ENST00000683989.1:c.2304T>C ENSP00000507510.1:p.Ile768=
ENST00000683994.1:c.2304T>C ENSP00000507181.1:p.Ile768=
ENST00000684290.1:c.2218T>C ENSP00000507243.1:p.Ter740Gln
ENST00000684306.1:c.*2217T>C ENSP00000508384.1:n.*2217T>C
ENST00000684341.1:n.2324T>C
ENST00000684383.1:c.*1942T>C ENSP00000506863.1:n.*1942T>C
ENST00000684397.1:c.8T>C
ENST00000684619.1:c.*2176T>C ENSP00000508088.1:n.*2176T>C
ENST00000684743.1:n.3335T>C
ENST00000260665.12:c.2304T>C MANE Select ENSP00000260665.7:p.Ile768=
ENST00000260665.11:c.2304T>C ENSP00000260665.7:p.Ile768=
NM_133259.3:c.2304T>C NP_573566.2:p.Ile768=
XM_006711915.2:c.2226T>C XP_006711978.1:p.Ile742=
XM_006711916.2:c.2304T>C XP_006711979.1:p.Ile768=
XM_011532473.1:c.2304T>C XP_011530775.1:p.Ile768=
XM_011532474.1:c.2304T>C XP_011530776.1:p.Ile768=
XM_006711916.3:c.2304T>C XP_006711979.1:p.Ile768=
XM_017003117.1:c.2226T>C XP_016858606.1:p.Ile742=
XR_002958896.1:n.2346T>C
NM_133259.4:c.2304T>C MANE Select NP_573566.2:p.Ile768=