Canonical Allele Identifier: CA1638104

Gene: LRPPRC

Linked Data

• dbSNP Id: rs765040540
• ExAC: 2:44132906 T / C
• gnomAD v2: 2-44132906-T-C
• gnomAD v4: 2-43905767-T-C
• MyVariant Identifiers: chr2:g.44132906T>C (hg19) ; chr2:g.43905767T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905767T>C , CM000664.2:g.43905767T>C	GRCh38
NC_000002.11:g.44132906T>C , CM000664.1:g.44132906T>C	GRCh37
NC_000002.10:g.43986410T>C	NCBI36
NG_008247.1:g.95239A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.368A>G
ENST00000681993.1:n.841A>G
ENST00000682295.1:c.444A>G	ENSP00000507499.1:n.444A>G
ENST00000682303.1:c.*3075A>G	ENSP00000508325.1:n.*3075A>G
ENST00000682308.1:c.3289A>G	ENSP00000507056.1:p.Ile1097Val
ENST00000682480.1:c.3307A>G	ENSP00000508344.1:p.Ile1103Val
ENST00000682546.1:c.3286A>G	ENSP00000508188.1:p.Ile1096Val
ENST00000682585.1:c.3289A>G	ENSP00000506885.1:p.Ile1097Val
ENST00000682595.1:n.3873A>G
ENST00000682607.1:c.1707A>G
ENST00000682612.1:c.141A>G
ENST00000682779.1:c.3280A>G	ENSP00000507947.1:p.Ile1094Val
ENST00000682845.1:n.2391A>G
ENST00000682885.1:c.3244A>G	ENSP00000508036.1:p.Ile1082Val
ENST00000682933.1:n.3363A>G
ENST00000683002.1:c.141A>G
ENST00000683072.1:n.3873A>G
ENST00000683080.1:n.908A>G
ENST00000683125.1:c.3397A>G	ENSP00000507939.1:p.Ile1133Val
ENST00000683213.1:c.3292A>G	ENSP00000507751.1:p.Ile1098Val
ENST00000683220.1:c.3319A>G	ENSP00000507151.1:p.Ile1107Val
ENST00000683329.1:n.4092A>G
ENST00000683346.1:c.*3164A>G	ENSP00000507458.1:n.*3164A>G
ENST00000683409.1:n.1896A>G
ENST00000683459.1:n.3876A>G
ENST00000683528.1:c.141A>G
ENST00000683590.1:c.3037A>G	ENSP00000506820.1:p.Ile1013Val
ENST00000683623.1:c.3196A>G	ENSP00000507702.1:p.Ile1066Val
ENST00000683645.1:n.3840A>G
ENST00000683796.1:c.*3161A>G	ENSP00000508221.1:n.*3161A>G
ENST00000683802.1:n.6214A>G
ENST00000683833.1:c.3280A>G	ENSP00000506852.1:p.Ile1094Val
ENST00000683994.1:c.3289A>G	ENSP00000507181.1:p.Ile1097Val
ENST00000684290.1:c.*825A>G	ENSP00000507243.1:n.*825A>G
ENST00000684306.1:c.*3202A>G	ENSP00000508384.1:n.*3202A>G
ENST00000684341.1:n.3309A>G
ENST00000684383.1:c.*2927A>G	ENSP00000506863.1:n.*2927A>G
ENST00000684418.1:n.4470A>G
ENST00000684454.1:n.2639A>G
ENST00000684619.1:c.*3161A>G	ENSP00000508088.1:n.*3161A>G
ENST00000684743.1:n.4320A>G
ENST00000260665.12:c.3289A>G MANE Select	ENSP00000260665.7:p.Ile1097Val
ENST00000260665.11:c.3289A>G	ENSP00000260665.7:p.Ile1097Val
NM_133259.3:c.3289A>G	NP_573566.2:p.Ile1097Val
XM_006711915.2:c.3211A>G	XP_006711978.1:p.Ile1071Val
XM_011532473.1:c.3289A>G	XP_011530775.1:p.Ile1097Val
XM_011532474.1:c.3289A>G	XP_011530776.1:p.Ile1097Val
XM_017003117.1:c.3211A>G	XP_016858606.1:p.Ile1071Val
XR_002958896.1:n.3331A>G
NM_133259.4:c.3289A>G MANE Select	NP_573566.2:p.Ile1097Val