Canonical Allele Identifier: CA346674807

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43894581-T-C
• MyVariant Identifiers: chr2:g.44121720T>C (hg19) ; chr2:g.43894581T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.579A>G
ENST00000681993.1:n.1501A>G
ENST00000682154.1:n.1383A>G
ENST00000682303.1:c.*3660A>G	ENSP00000508325.1:n.*3660A>G
ENST00000682308.1:c.3874A>G	ENSP00000507056.1:p.Lys1292Glu
ENST00000682434.1:n.3504A>G
ENST00000682480.1:c.3967A>G	ENSP00000508344.1:p.Lys1323Glu
ENST00000682546.1:c.3946A>G	ENSP00000508188.1:p.Lys1316Glu
ENST00000682585.1:c.*77A>G	ENSP00000506885.1:n.*77A>G
ENST00000682607.1:c.2692A>G
ENST00000682612.1:c.752+2053A>G
ENST00000682696.1:c.49A>G	ENSP00000508411.1:p.Lys17Glu
ENST00000682779.1:c.3940A>G	ENSP00000507947.1:p.Lys1314Glu
ENST00000682885.1:c.3904A>G	ENSP00000508036.1:p.Lys1302Glu
ENST00000682933.1:n.4149A>G
ENST00000683002.1:c.801A>G
ENST00000683072.1:n.4533A>G
ENST00000683080.1:n.1568A>G
ENST00000683096.1:n.2390A>G
ENST00000683125.1:c.4057A>G	ENSP00000507939.1:p.Lys1353Glu
ENST00000683213.1:c.3952A>G	ENSP00000507751.1:p.Lys1318Glu
ENST00000683220.1:c.3979A>G	ENSP00000507151.1:p.Lys1327Glu
ENST00000683329.1:n.4752A>G
ENST00000683346.1:c.*3824A>G	ENSP00000507458.1:n.*3824A>G
ENST00000683409.1:n.2481A>G
ENST00000683459.1:n.4536A>G
ENST00000683590.1:c.3622A>G	ENSP00000506820.1:p.Lys1208Glu
ENST00000683623.1:c.3856A>G	ENSP00000507702.1:p.Lys1286Glu
ENST00000683796.1:c.*3746A>G	ENSP00000508221.1:n.*3746A>G
ENST00000683833.1:c.3865A>G	ENSP00000506852.1:p.Lys1289Glu
ENST00000683994.1:c.*62A>G	ENSP00000507181.1:n.*62A>G
ENST00000684290.1:c.*1410A>G	ENSP00000507243.1:n.*1410A>G
ENST00000684306.1:c.*3862A>G	ENSP00000508384.1:n.*3862A>G
ENST00000684383.1:c.*3587A>G	ENSP00000506863.1:n.*3587A>G
ENST00000684418.1:n.5130A>G
ENST00000684433.1:n.333A>G
ENST00000684454.1:n.7813A>G
ENST00000684619.1:c.*3821A>G	ENSP00000508088.1:n.*3821A>G
ENST00000684743.1:n.6694A>G
ENST00000260665.12:c.3949A>G MANE Select	ENSP00000260665.7:p.Lys1317Glu
ENST00000260665.11:c.3949A>G	ENSP00000260665.7:p.Lys1317Glu
ENST00000419884.5:c.190A>G	ENSP00000414207.1:p.Lys64Glu
ENST00000463456.5:n.2992A>G
NM_133259.3:c.3949A>G	NP_573566.2:p.Lys1317Glu
XM_006711915.2:c.3871A>G	XP_006711978.1:p.Lys1291Glu
XM_011532473.1:c.3874A>G	XP_011530775.1:p.Lys1292Glu
XM_011532474.1:c.3949A>G	XP_011530776.1:p.Lys1317Glu
XM_017003117.1:c.3796A>G	XP_016858606.1:p.Lys1266Glu
XR_002958896.1:n.3991A>G
NM_133259.4:c.3949A>G MANE Select	NP_573566.2:p.Lys1317Glu