Canonical Allele Identifier: CA425909110

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43894590-A-G
• MyVariant Identifiers: chr2:g.44121729A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894590A>G , CM000664.2:g.43894590A>G	GRCh38
NC_000002.11:g.44121729A>G , CM000664.1:g.44121729A>G	GRCh37
NC_000002.10:g.43975233A>G	NCBI36
NG_008247.1:g.106416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.570T>C
ENST00000681993.1:n.1492T>C
ENST00000682154.1:n.1374T>C
ENST00000682303.1:c.*3651T>C	ENSP00000508325.1:n.*3651T>C
ENST00000682308.1:c.3865T>C	ENSP00000507056.1:p.Leu1289=
ENST00000682434.1:n.3495T>C
ENST00000682480.1:c.3958T>C	ENSP00000508344.1:p.Leu1320=
ENST00000682546.1:c.3937T>C	ENSP00000508188.1:p.Leu1313=
ENST00000682585.1:c.*68T>C	ENSP00000506885.1:n.*68T>C
ENST00000682607.1:c.2683T>C
ENST00000682612.1:c.752+2044T>C
ENST00000682696.1:c.40T>C	ENSP00000508411.1:p.Leu14=
ENST00000682779.1:c.3931T>C	ENSP00000507947.1:p.Leu1311=
ENST00000682885.1:c.3895T>C	ENSP00000508036.1:p.Leu1299=
ENST00000682933.1:n.4140T>C
ENST00000683002.1:c.792T>C
ENST00000683072.1:n.4524T>C
ENST00000683080.1:n.1559T>C
ENST00000683096.1:n.2381T>C
ENST00000683125.1:c.4048T>C	ENSP00000507939.1:p.Leu1350=
ENST00000683213.1:c.3943T>C	ENSP00000507751.1:p.Leu1315=
ENST00000683220.1:c.3970T>C	ENSP00000507151.1:p.Leu1324=
ENST00000683329.1:n.4743T>C
ENST00000683346.1:c.*3815T>C	ENSP00000507458.1:n.*3815T>C
ENST00000683409.1:n.2472T>C
ENST00000683459.1:n.4527T>C
ENST00000683590.1:c.3613T>C	ENSP00000506820.1:p.Leu1205=
ENST00000683623.1:c.3847T>C	ENSP00000507702.1:p.Leu1283=
ENST00000683796.1:c.*3737T>C	ENSP00000508221.1:n.*3737T>C
ENST00000683833.1:c.3856T>C	ENSP00000506852.1:p.Leu1286=
ENST00000683994.1:c.*53T>C	ENSP00000507181.1:n.*53T>C
ENST00000684290.1:c.*1401T>C	ENSP00000507243.1:n.*1401T>C
ENST00000684306.1:c.*3853T>C	ENSP00000508384.1:n.*3853T>C
ENST00000684383.1:c.*3578T>C	ENSP00000506863.1:n.*3578T>C
ENST00000684418.1:n.5121T>C
ENST00000684433.1:n.324T>C
ENST00000684454.1:n.7804T>C
ENST00000684619.1:c.*3812T>C	ENSP00000508088.1:n.*3812T>C
ENST00000684743.1:n.6685T>C
ENST00000260665.12:c.3940T>C MANE Select	ENSP00000260665.7:p.Leu1314=
ENST00000260665.11:c.3940T>C	ENSP00000260665.7:p.Leu1314=
ENST00000419884.5:c.181T>C	ENSP00000414207.1:p.Leu61=
ENST00000463456.5:n.2983T>C
NM_133259.3:c.3940T>C	NP_573566.2:p.Leu1314=
XM_006711915.2:c.3862T>C	XP_006711978.1:p.Leu1288=
XM_011532473.1:c.3865T>C	XP_011530775.1:p.Leu1289=
XM_011532474.1:c.3940T>C	XP_011530776.1:p.Leu1314=
XM_017003117.1:c.3787T>C	XP_016858606.1:p.Leu1263=
XR_002958896.1:n.3982T>C
NM_133259.4:c.3940T>C MANE Select	NP_573566.2:p.Leu1314=