Canonical Allele Identifier: CA346674806

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121720T>A (hg19) ; chr2:g.43894581T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894581T>A , CM000664.2:g.43894581T>A	GRCh38
NC_000002.11:g.44121720T>A , CM000664.1:g.44121720T>A	GRCh37
NC_000002.10:g.43975224T>A	NCBI36
NG_008247.1:g.106425A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.579A>T
ENST00000681993.1:n.1501A>T
ENST00000682154.1:n.1383A>T
ENST00000682303.1:c.*3660A>T	ENSP00000508325.1:n.*3660A>T
ENST00000682308.1:c.3874A>T	ENSP00000507056.1:p.Lys1292Ter
ENST00000682434.1:n.3504A>T
ENST00000682480.1:c.3967A>T	ENSP00000508344.1:p.Lys1323Ter
ENST00000682546.1:c.3946A>T	ENSP00000508188.1:p.Lys1316Ter
ENST00000682585.1:c.*77A>T	ENSP00000506885.1:n.*77A>T
ENST00000682607.1:c.2692A>T
ENST00000682612.1:c.752+2053A>T
ENST00000682696.1:c.49A>T	ENSP00000508411.1:p.Lys17Ter
ENST00000682779.1:c.3940A>T	ENSP00000507947.1:p.Lys1314Ter
ENST00000682885.1:c.3904A>T	ENSP00000508036.1:p.Lys1302Ter
ENST00000682933.1:n.4149A>T
ENST00000683002.1:c.801A>T
ENST00000683072.1:n.4533A>T
ENST00000683080.1:n.1568A>T
ENST00000683096.1:n.2390A>T
ENST00000683125.1:c.4057A>T	ENSP00000507939.1:p.Lys1353Ter
ENST00000683213.1:c.3952A>T	ENSP00000507751.1:p.Lys1318Ter
ENST00000683220.1:c.3979A>T	ENSP00000507151.1:p.Lys1327Ter
ENST00000683329.1:n.4752A>T
ENST00000683346.1:c.*3824A>T	ENSP00000507458.1:n.*3824A>T
ENST00000683409.1:n.2481A>T
ENST00000683459.1:n.4536A>T
ENST00000683590.1:c.3622A>T	ENSP00000506820.1:p.Lys1208Ter
ENST00000683623.1:c.3856A>T	ENSP00000507702.1:p.Lys1286Ter
ENST00000683796.1:c.*3746A>T	ENSP00000508221.1:n.*3746A>T
ENST00000683833.1:c.3865A>T	ENSP00000506852.1:p.Lys1289Ter
ENST00000683994.1:c.*62A>T	ENSP00000507181.1:n.*62A>T
ENST00000684290.1:c.*1410A>T	ENSP00000507243.1:n.*1410A>T
ENST00000684306.1:c.*3862A>T	ENSP00000508384.1:n.*3862A>T
ENST00000684383.1:c.*3587A>T	ENSP00000506863.1:n.*3587A>T
ENST00000684418.1:n.5130A>T
ENST00000684433.1:n.333A>T
ENST00000684454.1:n.7813A>T
ENST00000684619.1:c.*3821A>T	ENSP00000508088.1:n.*3821A>T
ENST00000684743.1:n.6694A>T
ENST00000260665.12:c.3949A>T MANE Select	ENSP00000260665.7:p.Lys1317Ter
ENST00000260665.11:c.3949A>T	ENSP00000260665.7:p.Lys1317Ter
ENST00000419884.5:c.190A>T	ENSP00000414207.1:p.Lys64Ter
ENST00000463456.5:n.2992A>T
NM_133259.3:c.3949A>T	NP_573566.2:p.Lys1317Ter
XM_006711915.2:c.3871A>T	XP_006711978.1:p.Lys1291Ter
XM_011532473.1:c.3874A>T	XP_011530775.1:p.Lys1292Ter
XM_011532474.1:c.3949A>T	XP_011530776.1:p.Lys1317Ter
XM_017003117.1:c.3796A>T	XP_016858606.1:p.Lys1266Ter
XR_002958896.1:n.3991A>T
NM_133259.4:c.3949A>T MANE Select	NP_573566.2:p.Lys1317Ter