Canonical Allele Identifier: CA425908522
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43918098-A-T
MyVariant Identifiers: chr2:g.44145237A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918098A>T , CM000664.2:g.43918098A>T GRCh38
NC_000002.11:g.44145237A>T , CM000664.1:g.44145237A>T GRCh37
NC_000002.10:g.43998741A>T NCBI36
NG_008247.1:g.82908T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.627T>A
ENST00000682295.1:c.303+158T>A ENSP00000507499.1:n.303+158T>A
ENST00000682303.1:c.*2861T>A ENSP00000508325.1:n.*2861T>A
ENST00000682308.1:c.3075T>A ENSP00000507056.1:p.Ser1025=
ENST00000682480.1:c.3093T>A ENSP00000508344.1:p.Ser1031=
ENST00000682546.1:c.3072T>A ENSP00000508188.1:p.Ser1024=
ENST00000682585.1:c.3075T>A ENSP00000506885.1:p.Ser1025=
ENST00000682595.1:n.3659T>A
ENST00000682607.1:c.1493T>A
ENST00000682779.1:c.3066T>A ENSP00000507947.1:p.Ser1022=
ENST00000682845.1:n.2177T>A
ENST00000682885.1:c.3030T>A ENSP00000508036.1:p.Ser1010=
ENST00000682933.1:n.3149T>A
ENST00000683072.1:n.3659T>A
ENST00000683080.1:n.694T>A
ENST00000683125.1:c.3183T>A ENSP00000507939.1:p.Ser1061=
ENST00000683213.1:c.3078T>A ENSP00000507751.1:p.Ser1026=
ENST00000683220.1:c.3105T>A ENSP00000507151.1:p.Ser1035=
ENST00000683329.1:n.3878T>A
ENST00000683346.1:c.*2950T>A ENSP00000507458.1:n.*2950T>A
ENST00000683409.1:n.1682T>A
ENST00000683459.1:n.3662T>A
ENST00000683590.1:c.2897-5540T>A ENSP00000506820.1:n.2897-5540T>A
ENST00000683623.1:c.2982T>A ENSP00000507702.1:p.Ser994=
ENST00000683645.1:n.3626T>A
ENST00000683796.1:c.*2947T>A ENSP00000508221.1:n.*2947T>A
ENST00000683802.1:n.6000T>A
ENST00000683833.1:c.3066T>A ENSP00000506852.1:p.Ser1022=
ENST00000683994.1:c.3075T>A ENSP00000507181.1:p.Ser1025=
ENST00000684290.1:c.*611T>A ENSP00000507243.1:n.*611T>A
ENST00000684306.1:c.*2988T>A ENSP00000508384.1:n.*2988T>A
ENST00000684341.1:n.3095T>A
ENST00000684383.1:c.*2713T>A ENSP00000506863.1:n.*2713T>A
ENST00000684619.1:c.*2947T>A ENSP00000508088.1:n.*2947T>A
ENST00000684705.1:n.196T>A
ENST00000684743.1:n.4106T>A
ENST00000260665.12:c.3075T>A MANE Select ENSP00000260665.7:p.Ser1025=
ENST00000260665.11:c.3075T>A ENSP00000260665.7:p.Ser1025=
NM_133259.3:c.3075T>A NP_573566.2:p.Ser1025=
XM_006711915.2:c.2997T>A XP_006711978.1:p.Ser999=
XM_006711916.2:c.3075T>A XP_006711979.1:p.Ser1025=
XM_011532473.1:c.3075T>A XP_011530775.1:p.Ser1025=
XM_011532474.1:c.3075T>A XP_011530776.1:p.Ser1025=
XM_006711916.3:c.3075T>A XP_006711979.1:p.Ser1025=
XM_017003117.1:c.2997T>A XP_016858606.1:p.Ser999=
XR_002958896.1:n.3117T>A
NM_133259.4:c.3075T>A MANE Select NP_573566.2:p.Ser1025=