Canonical Allele Identifier: CA346676766

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899331-C-T
• MyVariant Identifiers: chr2:g.44126470C>T (hg19) ; chr2:g.43899331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899331C>T , CM000664.2:g.43899331C>T	GRCh38
NC_000002.11:g.44126470C>T , CM000664.1:g.44126470C>T	GRCh37
NC_000002.10:g.43979974C>T	NCBI36
NG_008247.1:g.101675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.144G>A
ENST00000472420.6:n.792G>A
ENST00000483489.2:n.144G>A
ENST00000681993.1:n.1265G>A
ENST00000682303.1:c.*3499G>A	ENSP00000508325.1:n.*3499G>A
ENST00000682308.1:c.3713G>A	ENSP00000507056.1:p.Ser1238Asn
ENST00000682434.1:n.1264G>A
ENST00000682480.1:c.3731G>A	ENSP00000508344.1:p.Ser1244Asn
ENST00000682546.1:c.3710G>A	ENSP00000508188.1:p.Ser1237Asn
ENST00000682585.1:c.3713G>A	ENSP00000506885.1:p.Ser1238Asn
ENST00000682595.1:n.4297G>A
ENST00000682607.1:c.2131G>A
ENST00000682612.1:c.565G>A
ENST00000682779.1:c.3704G>A	ENSP00000507947.1:p.Ser1235Asn
ENST00000682845.1:n.2815G>A
ENST00000682885.1:c.3668G>A	ENSP00000508036.1:p.Ser1223Asn
ENST00000682933.1:n.3787G>A
ENST00000683002.1:c.565G>A
ENST00000683072.1:n.4297G>A
ENST00000683080.1:n.1332G>A
ENST00000683125.1:c.3821G>A	ENSP00000507939.1:p.Ser1274Asn
ENST00000683213.1:c.3716G>A	ENSP00000507751.1:p.Ser1239Asn
ENST00000683220.1:c.3743G>A	ENSP00000507151.1:p.Ser1248Asn
ENST00000683329.1:n.4516G>A
ENST00000683346.1:c.*3588G>A	ENSP00000507458.1:n.*3588G>A
ENST00000683409.1:n.2320G>A
ENST00000683459.1:n.4300G>A
ENST00000683528.1:c.641G>A
ENST00000683590.1:c.3461G>A	ENSP00000506820.1:p.Ser1154Asn
ENST00000683623.1:c.3620G>A	ENSP00000507702.1:p.Ser1207Asn
ENST00000683645.1:n.4264G>A
ENST00000683796.1:c.*3585G>A	ENSP00000508221.1:n.*3585G>A
ENST00000683802.1:n.6638G>A
ENST00000683833.1:c.3704G>A	ENSP00000506852.1:p.Ser1235Asn
ENST00000683994.1:c.3713G>A	ENSP00000507181.1:p.Ser1238Asn
ENST00000684290.1:c.*1249G>A	ENSP00000507243.1:n.*1249G>A
ENST00000684306.1:c.*3626G>A	ENSP00000508384.1:n.*3626G>A
ENST00000684341.1:n.3733G>A
ENST00000684383.1:c.*3351G>A	ENSP00000506863.1:n.*3351G>A
ENST00000684418.1:n.4894G>A
ENST00000684433.1:n.97G>A
ENST00000684454.1:n.3063G>A
ENST00000684619.1:c.*3585G>A	ENSP00000508088.1:n.*3585G>A
ENST00000684743.1:n.6458G>A
ENST00000260665.12:c.3713G>A MANE Select	ENSP00000260665.7:p.Ser1238Asn
ENST00000260665.11:c.3713G>A	ENSP00000260665.7:p.Ser1238Asn
ENST00000463456.5:n.2756G>A
ENST00000472420.5:n.110G>A
ENST00000483489.1:n.187G>A
NM_133259.3:c.3713G>A	NP_573566.2:p.Ser1238Asn
XM_006711915.2:c.3635G>A	XP_006711978.1:p.Ser1212Asn
XM_011532473.1:c.3713G>A	XP_011530775.1:p.Ser1238Asn
XM_011532474.1:c.3713G>A	XP_011530776.1:p.Ser1238Asn
XM_017003117.1:c.3635G>A	XP_016858606.1:p.Ser1212Asn
XR_002958896.1:n.3755G>A
NM_133259.4:c.3713G>A MANE Select	NP_573566.2:p.Ser1238Asn