Canonical Allele Identifier: CA346676764

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126470C>A (hg19) ; chr2:g.43899331C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.144G>T
ENST00000472420.6:n.792G>T
ENST00000483489.2:n.144G>T
ENST00000681993.1:n.1265G>T
ENST00000682303.1:c.*3499G>T	ENSP00000508325.1:n.*3499G>T
ENST00000682308.1:c.3713G>T	ENSP00000507056.1:p.Ser1238Ile
ENST00000682434.1:n.1264G>T
ENST00000682480.1:c.3731G>T	ENSP00000508344.1:p.Ser1244Ile
ENST00000682546.1:c.3710G>T	ENSP00000508188.1:p.Ser1237Ile
ENST00000682585.1:c.3713G>T	ENSP00000506885.1:p.Ser1238Ile
ENST00000682595.1:n.4297G>T
ENST00000682607.1:c.2131G>T
ENST00000682612.1:c.565G>T
ENST00000682779.1:c.3704G>T	ENSP00000507947.1:p.Ser1235Ile
ENST00000682845.1:n.2815G>T
ENST00000682885.1:c.3668G>T	ENSP00000508036.1:p.Ser1223Ile
ENST00000682933.1:n.3787G>T
ENST00000683002.1:c.565G>T
ENST00000683072.1:n.4297G>T
ENST00000683080.1:n.1332G>T
ENST00000683125.1:c.3821G>T	ENSP00000507939.1:p.Ser1274Ile
ENST00000683213.1:c.3716G>T	ENSP00000507751.1:p.Ser1239Ile
ENST00000683220.1:c.3743G>T	ENSP00000507151.1:p.Ser1248Ile
ENST00000683329.1:n.4516G>T
ENST00000683346.1:c.*3588G>T	ENSP00000507458.1:n.*3588G>T
ENST00000683409.1:n.2320G>T
ENST00000683459.1:n.4300G>T
ENST00000683528.1:c.641G>T
ENST00000683590.1:c.3461G>T	ENSP00000506820.1:p.Ser1154Ile
ENST00000683623.1:c.3620G>T	ENSP00000507702.1:p.Ser1207Ile
ENST00000683645.1:n.4264G>T
ENST00000683796.1:c.*3585G>T	ENSP00000508221.1:n.*3585G>T
ENST00000683802.1:n.6638G>T
ENST00000683833.1:c.3704G>T	ENSP00000506852.1:p.Ser1235Ile
ENST00000683994.1:c.3713G>T	ENSP00000507181.1:p.Ser1238Ile
ENST00000684290.1:c.*1249G>T	ENSP00000507243.1:n.*1249G>T
ENST00000684306.1:c.*3626G>T	ENSP00000508384.1:n.*3626G>T
ENST00000684341.1:n.3733G>T
ENST00000684383.1:c.*3351G>T	ENSP00000506863.1:n.*3351G>T
ENST00000684418.1:n.4894G>T
ENST00000684433.1:n.97G>T
ENST00000684454.1:n.3063G>T
ENST00000684619.1:c.*3585G>T	ENSP00000508088.1:n.*3585G>T
ENST00000684743.1:n.6458G>T
ENST00000260665.12:c.3713G>T MANE Select	ENSP00000260665.7:p.Ser1238Ile
ENST00000260665.11:c.3713G>T	ENSP00000260665.7:p.Ser1238Ile
ENST00000463456.5:n.2756G>T
ENST00000472420.5:n.110G>T
ENST00000483489.1:n.187G>T
NM_133259.3:c.3713G>T	NP_573566.2:p.Ser1238Ile
XM_006711915.2:c.3635G>T	XP_006711978.1:p.Ser1212Ile
XM_011532473.1:c.3713G>T	XP_011530775.1:p.Ser1238Ile
XM_011532474.1:c.3713G>T	XP_011530776.1:p.Ser1238Ile
XM_017003117.1:c.3635G>T	XP_016858606.1:p.Ser1212Ile
XR_002958896.1:n.3755G>T
NM_133259.4:c.3713G>T MANE Select	NP_573566.2:p.Ser1238Ile