Canonical Allele Identifier: CA346676768

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126471T>A (hg19) ; chr2:g.43899332T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.143A>T
ENST00000472420.6:n.791A>T
ENST00000483489.2:n.143A>T
ENST00000681993.1:n.1264A>T
ENST00000682303.1:c.*3498A>T	ENSP00000508325.1:n.*3498A>T
ENST00000682308.1:c.3712A>T	ENSP00000507056.1:p.Ser1238Cys
ENST00000682434.1:n.1263A>T
ENST00000682480.1:c.3730A>T	ENSP00000508344.1:p.Ser1244Cys
ENST00000682546.1:c.3709A>T	ENSP00000508188.1:p.Ser1237Cys
ENST00000682585.1:c.3712A>T	ENSP00000506885.1:p.Ser1238Cys
ENST00000682595.1:n.4296A>T
ENST00000682607.1:c.2130A>T
ENST00000682612.1:c.564A>T
ENST00000682779.1:c.3703A>T	ENSP00000507947.1:p.Ser1235Cys
ENST00000682845.1:n.2814A>T
ENST00000682885.1:c.3667A>T	ENSP00000508036.1:p.Ser1223Cys
ENST00000682933.1:n.3786A>T
ENST00000683002.1:c.564A>T
ENST00000683072.1:n.4296A>T
ENST00000683080.1:n.1331A>T
ENST00000683125.1:c.3820A>T	ENSP00000507939.1:p.Ser1274Cys
ENST00000683213.1:c.3715A>T	ENSP00000507751.1:p.Ser1239Cys
ENST00000683220.1:c.3742A>T	ENSP00000507151.1:p.Ser1248Cys
ENST00000683329.1:n.4515A>T
ENST00000683346.1:c.*3587A>T	ENSP00000507458.1:n.*3587A>T
ENST00000683409.1:n.2319A>T
ENST00000683459.1:n.4299A>T
ENST00000683528.1:c.640A>T
ENST00000683590.1:c.3460A>T	ENSP00000506820.1:p.Ser1154Cys
ENST00000683623.1:c.3619A>T	ENSP00000507702.1:p.Ser1207Cys
ENST00000683645.1:n.4263A>T
ENST00000683796.1:c.*3584A>T	ENSP00000508221.1:n.*3584A>T
ENST00000683802.1:n.6637A>T
ENST00000683833.1:c.3703A>T	ENSP00000506852.1:p.Ser1235Cys
ENST00000683994.1:c.3712A>T	ENSP00000507181.1:p.Ser1238Cys
ENST00000684290.1:c.*1248A>T	ENSP00000507243.1:n.*1248A>T
ENST00000684306.1:c.*3625A>T	ENSP00000508384.1:n.*3625A>T
ENST00000684341.1:n.3732A>T
ENST00000684383.1:c.*3350A>T	ENSP00000506863.1:n.*3350A>T
ENST00000684418.1:n.4893A>T
ENST00000684433.1:n.96A>T
ENST00000684454.1:n.3062A>T
ENST00000684619.1:c.*3584A>T	ENSP00000508088.1:n.*3584A>T
ENST00000684743.1:n.6457A>T
ENST00000260665.12:c.3712A>T MANE Select	ENSP00000260665.7:p.Ser1238Cys
ENST00000260665.11:c.3712A>T	ENSP00000260665.7:p.Ser1238Cys
ENST00000463456.5:n.2755A>T
ENST00000472420.5:n.109A>T
ENST00000483489.1:n.186A>T
NM_133259.3:c.3712A>T	NP_573566.2:p.Ser1238Cys
XM_006711915.2:c.3634A>T	XP_006711978.1:p.Ser1212Cys
XM_011532473.1:c.3712A>T	XP_011530775.1:p.Ser1238Cys
XM_011532474.1:c.3712A>T	XP_011530776.1:p.Ser1238Cys
XM_017003117.1:c.3634A>T	XP_016858606.1:p.Ser1212Cys
XR_002958896.1:n.3754A>T
NM_133259.4:c.3712A>T MANE Select	NP_573566.2:p.Ser1238Cys