Canonical Allele Identifier: CA1637965

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2146406
• ClinVar RCV Id: RCV003074546
• dbSNP Id: rs753104408
• ExAC: 2:44126471 T / C
• gnomAD v2: 2-44126471-T-C
• gnomAD v3: 2-43899332-T-C
• gnomAD v4: 2-43899332-T-C
• MyVariant Identifiers: chr2:g.44126471T>C (hg19) ; chr2:g.43899332T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899332T>C , CM000664.2:g.43899332T>C	GRCh38
NC_000002.11:g.44126471T>C , CM000664.1:g.44126471T>C	GRCh37
NC_000002.10:g.43979975T>C	NCBI36
NG_008247.1:g.101674A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.143A>G
ENST00000472420.6:n.791A>G
ENST00000483489.2:n.143A>G
ENST00000681993.1:n.1264A>G
ENST00000682303.1:c.*3498A>G	ENSP00000508325.1:n.*3498A>G
ENST00000682308.1:c.3712A>G	ENSP00000507056.1:p.Ser1238Gly
ENST00000682434.1:n.1263A>G
ENST00000682480.1:c.3730A>G	ENSP00000508344.1:p.Ser1244Gly
ENST00000682546.1:c.3709A>G	ENSP00000508188.1:p.Ser1237Gly
ENST00000682585.1:c.3712A>G	ENSP00000506885.1:p.Ser1238Gly
ENST00000682595.1:n.4296A>G
ENST00000682607.1:c.2130A>G
ENST00000682612.1:c.564A>G
ENST00000682779.1:c.3703A>G	ENSP00000507947.1:p.Ser1235Gly
ENST00000682845.1:n.2814A>G
ENST00000682885.1:c.3667A>G	ENSP00000508036.1:p.Ser1223Gly
ENST00000682933.1:n.3786A>G
ENST00000683002.1:c.564A>G
ENST00000683072.1:n.4296A>G
ENST00000683080.1:n.1331A>G
ENST00000683125.1:c.3820A>G	ENSP00000507939.1:p.Ser1274Gly
ENST00000683213.1:c.3715A>G	ENSP00000507751.1:p.Ser1239Gly
ENST00000683220.1:c.3742A>G	ENSP00000507151.1:p.Ser1248Gly
ENST00000683329.1:n.4515A>G
ENST00000683346.1:c.*3587A>G	ENSP00000507458.1:n.*3587A>G
ENST00000683409.1:n.2319A>G
ENST00000683459.1:n.4299A>G
ENST00000683528.1:c.640A>G
ENST00000683590.1:c.3460A>G	ENSP00000506820.1:p.Ser1154Gly
ENST00000683623.1:c.3619A>G	ENSP00000507702.1:p.Ser1207Gly
ENST00000683645.1:n.4263A>G
ENST00000683796.1:c.*3584A>G	ENSP00000508221.1:n.*3584A>G
ENST00000683802.1:n.6637A>G
ENST00000683833.1:c.3703A>G	ENSP00000506852.1:p.Ser1235Gly
ENST00000683994.1:c.3712A>G	ENSP00000507181.1:p.Ser1238Gly
ENST00000684290.1:c.*1248A>G	ENSP00000507243.1:n.*1248A>G
ENST00000684306.1:c.*3625A>G	ENSP00000508384.1:n.*3625A>G
ENST00000684341.1:n.3732A>G
ENST00000684383.1:c.*3350A>G	ENSP00000506863.1:n.*3350A>G
ENST00000684418.1:n.4893A>G
ENST00000684433.1:n.96A>G
ENST00000684454.1:n.3062A>G
ENST00000684619.1:c.*3584A>G	ENSP00000508088.1:n.*3584A>G
ENST00000684743.1:n.6457A>G
ENST00000260665.12:c.3712A>G MANE Select	ENSP00000260665.7:p.Ser1238Gly
ENST00000260665.11:c.3712A>G	ENSP00000260665.7:p.Ser1238Gly
ENST00000463456.5:n.2755A>G
ENST00000472420.5:n.109A>G
ENST00000483489.1:n.186A>G
NM_133259.3:c.3712A>G	NP_573566.2:p.Ser1238Gly
XM_006711915.2:c.3634A>G	XP_006711978.1:p.Ser1212Gly
XM_011532473.1:c.3712A>G	XP_011530775.1:p.Ser1238Gly
XM_011532474.1:c.3712A>G	XP_011530776.1:p.Ser1238Gly
XM_017003117.1:c.3634A>G	XP_016858606.1:p.Ser1212Gly
XR_002958896.1:n.3754A>G
NM_133259.4:c.3712A>G MANE Select	NP_573566.2:p.Ser1238Gly