Canonical Allele Identifier: CA46434758

Gene: LRPPRC

Linked Data

• dbSNP Id: rs781451529
• gnomAD v2: 2-44132864-T-C
• gnomAD v3: 2-43905725-T-C
• gnomAD v4: 2-43905725-T-C
• MyVariant Identifiers: chr2:g.44132864T>C (hg19) ; chr2:g.43905725T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905725T>C , CM000664.2:g.43905725T>C	GRCh38
NC_000002.11:g.44132864T>C , CM000664.1:g.44132864T>C	GRCh37
NC_000002.10:g.43986368T>C	NCBI36
NG_008247.1:g.95281A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.410A>G
ENST00000681993.1:n.883A>G
ENST00000682295.1:c.486A>G	ENSP00000507499.1:n.486A>G
ENST00000682303.1:c.*3117A>G	ENSP00000508325.1:n.*3117A>G
ENST00000682308.1:c.3331A>G	ENSP00000507056.1:p.Ile1111Val
ENST00000682480.1:c.3349A>G	ENSP00000508344.1:p.Ile1117Val
ENST00000682546.1:c.3328A>G	ENSP00000508188.1:p.Ile1110Val
ENST00000682585.1:c.3331A>G	ENSP00000506885.1:p.Ile1111Val
ENST00000682595.1:n.3915A>G
ENST00000682607.1:c.1749A>G
ENST00000682612.1:c.183A>G
ENST00000682779.1:c.3322A>G	ENSP00000507947.1:p.Ile1108Val
ENST00000682845.1:n.2433A>G
ENST00000682885.1:c.3286A>G	ENSP00000508036.1:p.Ile1096Val
ENST00000682933.1:n.3405A>G
ENST00000683002.1:c.183A>G
ENST00000683072.1:n.3915A>G
ENST00000683080.1:n.950A>G
ENST00000683125.1:c.3439A>G	ENSP00000507939.1:p.Ile1147Val
ENST00000683213.1:c.3334A>G	ENSP00000507751.1:p.Ile1112Val
ENST00000683220.1:c.3361A>G	ENSP00000507151.1:p.Ile1121Val
ENST00000683329.1:n.4134A>G
ENST00000683346.1:c.*3206A>G	ENSP00000507458.1:n.*3206A>G
ENST00000683409.1:n.1938A>G
ENST00000683459.1:n.3918A>G
ENST00000683528.1:c.183A>G
ENST00000683590.1:c.3079A>G	ENSP00000506820.1:p.Ile1027Val
ENST00000683623.1:c.3238A>G	ENSP00000507702.1:p.Ile1080Val
ENST00000683645.1:n.3882A>G
ENST00000683796.1:c.*3203A>G	ENSP00000508221.1:n.*3203A>G
ENST00000683802.1:n.6256A>G
ENST00000683833.1:c.3322A>G	ENSP00000506852.1:p.Ile1108Val
ENST00000683994.1:c.3331A>G	ENSP00000507181.1:p.Ile1111Val
ENST00000684290.1:c.*867A>G	ENSP00000507243.1:n.*867A>G
ENST00000684306.1:c.*3244A>G	ENSP00000508384.1:n.*3244A>G
ENST00000684341.1:n.3351A>G
ENST00000684383.1:c.*2969A>G	ENSP00000506863.1:n.*2969A>G
ENST00000684418.1:n.4512A>G
ENST00000684454.1:n.2681A>G
ENST00000684619.1:c.*3203A>G	ENSP00000508088.1:n.*3203A>G
ENST00000684743.1:n.4362A>G
ENST00000260665.12:c.3331A>G MANE Select	ENSP00000260665.7:p.Ile1111Val
ENST00000260665.11:c.3331A>G	ENSP00000260665.7:p.Ile1111Val
NM_133259.3:c.3331A>G	NP_573566.2:p.Ile1111Val
XM_006711915.2:c.3253A>G	XP_006711978.1:p.Ile1085Val
XM_011532473.1:c.3331A>G	XP_011530775.1:p.Ile1111Val
XM_011532474.1:c.3331A>G	XP_011530776.1:p.Ile1111Val
XM_017003117.1:c.3253A>G	XP_016858606.1:p.Ile1085Val
XR_002958896.1:n.3373A>G
NM_133259.4:c.3331A>G MANE Select	NP_573566.2:p.Ile1111Val