Canonical Allele Identifier: CA346676356

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126370T>A (hg19) ; chr2:g.43899231T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899231T>A , CM000664.2:g.43899231T>A	GRCh38
NC_000002.11:g.44126370T>A , CM000664.1:g.44126370T>A	GRCh37
NC_000002.10:g.43979874T>A	NCBI36
NG_008247.1:g.101775A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.244A>T
ENST00000472420.6:n.892A>T
ENST00000483489.2:n.244A>T
ENST00000681993.1:n.1365A>T
ENST00000682303.1:c.*3599A>T	ENSP00000508325.1:n.*3599A>T
ENST00000682308.1:c.3813A>T	ENSP00000507056.1:p.Arg1271Ser
ENST00000682434.1:n.1364A>T
ENST00000682480.1:c.3831A>T	ENSP00000508344.1:p.Arg1277Ser
ENST00000682546.1:c.3810A>T	ENSP00000508188.1:p.Arg1270Ser
ENST00000682585.1:c.3813A>T	ENSP00000506885.1:p.Arg1271Ser
ENST00000682595.1:n.4397A>T
ENST00000682607.1:c.2231A>T
ENST00000682612.1:c.665A>T
ENST00000682779.1:c.3804A>T	ENSP00000507947.1:p.Arg1268Ser
ENST00000682885.1:c.3768A>T	ENSP00000508036.1:p.Arg1256Ser
ENST00000682933.1:n.3887A>T
ENST00000683002.1:c.665A>T
ENST00000683072.1:n.4397A>T
ENST00000683080.1:n.1432A>T
ENST00000683125.1:c.3921A>T	ENSP00000507939.1:p.Arg1307Ser
ENST00000683213.1:c.3816A>T	ENSP00000507751.1:p.Arg1272Ser
ENST00000683220.1:c.3843A>T	ENSP00000507151.1:p.Arg1281Ser
ENST00000683329.1:n.4616A>T
ENST00000683346.1:c.*3688A>T	ENSP00000507458.1:n.*3688A>T
ENST00000683409.1:n.2420A>T
ENST00000683459.1:n.4400A>T
ENST00000683528.1:c.741A>T
ENST00000683590.1:c.3561A>T	ENSP00000506820.1:p.Arg1187Ser
ENST00000683623.1:c.3720A>T	ENSP00000507702.1:p.Arg1240Ser
ENST00000683645.1:n.4364A>T
ENST00000683796.1:c.*3685A>T	ENSP00000508221.1:n.*3685A>T
ENST00000683802.1:n.6738A>T
ENST00000683833.1:c.3804A>T	ENSP00000506852.1:p.Arg1268Ser
ENST00000683994.1:c.3813A>T	ENSP00000507181.1:p.Arg1271Ser
ENST00000684290.1:c.*1349A>T	ENSP00000507243.1:n.*1349A>T
ENST00000684306.1:c.*3726A>T	ENSP00000508384.1:n.*3726A>T
ENST00000684341.1:n.3833A>T
ENST00000684383.1:c.*3451A>T	ENSP00000506863.1:n.*3451A>T
ENST00000684418.1:n.4994A>T
ENST00000684433.1:n.197A>T
ENST00000684454.1:n.3163A>T
ENST00000684619.1:c.*3685A>T	ENSP00000508088.1:n.*3685A>T
ENST00000684743.1:n.6558A>T
ENST00000260665.12:c.3813A>T MANE Select	ENSP00000260665.7:p.Arg1271Ser
ENST00000260665.11:c.3813A>T	ENSP00000260665.7:p.Arg1271Ser
ENST00000419884.5:c.54A>T	ENSP00000414207.1:p.Arg18Ser
ENST00000463456.5:n.2856A>T
ENST00000472420.5:n.210A>T
ENST00000483489.1:n.287A>T
NM_133259.3:c.3813A>T	NP_573566.2:p.Arg1271Ser
XM_006711915.2:c.3735A>T	XP_006711978.1:p.Arg1245Ser
XM_011532473.1:c.3813A>T	XP_011530775.1:p.Arg1271Ser
XM_011532474.1:c.3813A>T	XP_011530776.1:p.Arg1271Ser
XM_017003117.1:c.3735A>T	XP_016858606.1:p.Arg1245Ser
XR_002958896.1:n.3855A>T
NM_133259.4:c.3813A>T MANE Select	NP_573566.2:p.Arg1271Ser