Canonical Allele Identifier: CA346676513

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126407A>G (hg19) ; chr2:g.43899268A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899268A>G , CM000664.2:g.43899268A>G	GRCh38
NC_000002.11:g.44126407A>G , CM000664.1:g.44126407A>G	GRCh37
NC_000002.10:g.43979911A>G	NCBI36
NG_008247.1:g.101738T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.207T>C
ENST00000472420.6:n.855T>C
ENST00000483489.2:n.207T>C
ENST00000681993.1:n.1328T>C
ENST00000682303.1:c.*3562T>C	ENSP00000508325.1:n.*3562T>C
ENST00000682308.1:c.3776T>C	ENSP00000507056.1:p.Leu1259Pro
ENST00000682434.1:n.1327T>C
ENST00000682480.1:c.3794T>C	ENSP00000508344.1:p.Leu1265Pro
ENST00000682546.1:c.3773T>C	ENSP00000508188.1:p.Leu1258Pro
ENST00000682585.1:c.3776T>C	ENSP00000506885.1:p.Leu1259Pro
ENST00000682595.1:n.4360T>C
ENST00000682607.1:c.2194T>C
ENST00000682612.1:c.628T>C
ENST00000682779.1:c.3767T>C	ENSP00000507947.1:p.Leu1256Pro
ENST00000682845.1:n.2878T>C
ENST00000682885.1:c.3731T>C	ENSP00000508036.1:p.Leu1244Pro
ENST00000682933.1:n.3850T>C
ENST00000683002.1:c.628T>C
ENST00000683072.1:n.4360T>C
ENST00000683080.1:n.1395T>C
ENST00000683125.1:c.3884T>C	ENSP00000507939.1:p.Leu1295Pro
ENST00000683213.1:c.3779T>C	ENSP00000507751.1:p.Leu1260Pro
ENST00000683220.1:c.3806T>C	ENSP00000507151.1:p.Leu1269Pro
ENST00000683329.1:n.4579T>C
ENST00000683346.1:c.*3651T>C	ENSP00000507458.1:n.*3651T>C
ENST00000683409.1:n.2383T>C
ENST00000683459.1:n.4363T>C
ENST00000683528.1:c.704T>C
ENST00000683590.1:c.3524T>C	ENSP00000506820.1:p.Leu1175Pro
ENST00000683623.1:c.3683T>C	ENSP00000507702.1:p.Leu1228Pro
ENST00000683645.1:n.4327T>C
ENST00000683796.1:c.*3648T>C	ENSP00000508221.1:n.*3648T>C
ENST00000683802.1:n.6701T>C
ENST00000683833.1:c.3767T>C	ENSP00000506852.1:p.Leu1256Pro
ENST00000683994.1:c.3776T>C	ENSP00000507181.1:p.Leu1259Pro
ENST00000684290.1:c.*1312T>C	ENSP00000507243.1:n.*1312T>C
ENST00000684306.1:c.*3689T>C	ENSP00000508384.1:n.*3689T>C
ENST00000684341.1:n.3796T>C
ENST00000684383.1:c.*3414T>C	ENSP00000506863.1:n.*3414T>C
ENST00000684418.1:n.4957T>C
ENST00000684433.1:n.160T>C
ENST00000684454.1:n.3126T>C
ENST00000684619.1:c.*3648T>C	ENSP00000508088.1:n.*3648T>C
ENST00000684743.1:n.6521T>C
ENST00000260665.12:c.3776T>C MANE Select	ENSP00000260665.7:p.Leu1259Pro
ENST00000260665.11:c.3776T>C	ENSP00000260665.7:p.Leu1259Pro
ENST00000419884.5:c.17T>C	ENSP00000414207.1:p.Leu6Pro
ENST00000463456.5:n.2819T>C
ENST00000472420.5:n.173T>C
ENST00000483489.1:n.250T>C
NM_133259.3:c.3776T>C	NP_573566.2:p.Leu1259Pro
XM_006711915.2:c.3698T>C	XP_006711978.1:p.Leu1233Pro
XM_011532473.1:c.3776T>C	XP_011530775.1:p.Leu1259Pro
XM_011532474.1:c.3776T>C	XP_011530776.1:p.Leu1259Pro
XM_017003117.1:c.3698T>C	XP_016858606.1:p.Leu1233Pro
XR_002958896.1:n.3818T>C
NM_133259.4:c.3776T>C MANE Select	NP_573566.2:p.Leu1259Pro