Canonical Allele Identifier: CA346674826

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43894588-T-G
• MyVariant Identifiers: chr2:g.44121727T>G (hg19) ; chr2:g.43894588T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894588T>G , CM000664.2:g.43894588T>G	GRCh38
NC_000002.11:g.44121727T>G , CM000664.1:g.44121727T>G	GRCh37
NC_000002.10:g.43975231T>G	NCBI36
NG_008247.1:g.106418A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.572A>C
ENST00000681993.1:n.1494A>C
ENST00000682154.1:n.1376A>C
ENST00000682303.1:c.*3653A>C	ENSP00000508325.1:n.*3653A>C
ENST00000682308.1:c.3867A>C	ENSP00000507056.1:p.Leu1289Phe
ENST00000682434.1:n.3497A>C
ENST00000682480.1:c.3960A>C	ENSP00000508344.1:p.Leu1320Phe
ENST00000682546.1:c.3939A>C	ENSP00000508188.1:p.Leu1313Phe
ENST00000682585.1:c.*70A>C	ENSP00000506885.1:n.*70A>C
ENST00000682607.1:c.2685A>C
ENST00000682612.1:c.752+2046A>C
ENST00000682696.1:c.42A>C	ENSP00000508411.1:p.Leu14Phe
ENST00000682779.1:c.3933A>C	ENSP00000507947.1:p.Leu1311Phe
ENST00000682885.1:c.3897A>C	ENSP00000508036.1:p.Leu1299Phe
ENST00000682933.1:n.4142A>C
ENST00000683002.1:c.794A>C
ENST00000683072.1:n.4526A>C
ENST00000683080.1:n.1561A>C
ENST00000683096.1:n.2383A>C
ENST00000683125.1:c.4050A>C	ENSP00000507939.1:p.Leu1350Phe
ENST00000683213.1:c.3945A>C	ENSP00000507751.1:p.Leu1315Phe
ENST00000683220.1:c.3972A>C	ENSP00000507151.1:p.Leu1324Phe
ENST00000683329.1:n.4745A>C
ENST00000683346.1:c.*3817A>C	ENSP00000507458.1:n.*3817A>C
ENST00000683409.1:n.2474A>C
ENST00000683459.1:n.4529A>C
ENST00000683590.1:c.3615A>C	ENSP00000506820.1:p.Leu1205Phe
ENST00000683623.1:c.3849A>C	ENSP00000507702.1:p.Leu1283Phe
ENST00000683796.1:c.*3739A>C	ENSP00000508221.1:n.*3739A>C
ENST00000683833.1:c.3858A>C	ENSP00000506852.1:p.Leu1286Phe
ENST00000683994.1:c.*55A>C	ENSP00000507181.1:n.*55A>C
ENST00000684290.1:c.*1403A>C	ENSP00000507243.1:n.*1403A>C
ENST00000684306.1:c.*3855A>C	ENSP00000508384.1:n.*3855A>C
ENST00000684383.1:c.*3580A>C	ENSP00000506863.1:n.*3580A>C
ENST00000684418.1:n.5123A>C
ENST00000684433.1:n.326A>C
ENST00000684454.1:n.7806A>C
ENST00000684619.1:c.*3814A>C	ENSP00000508088.1:n.*3814A>C
ENST00000684743.1:n.6687A>C
ENST00000260665.12:c.3942A>C MANE Select	ENSP00000260665.7:p.Leu1314Phe
ENST00000260665.11:c.3942A>C	ENSP00000260665.7:p.Leu1314Phe
ENST00000419884.5:c.183A>C	ENSP00000414207.1:p.Leu61Phe
ENST00000463456.5:n.2985A>C
NM_133259.3:c.3942A>C	NP_573566.2:p.Leu1314Phe
XM_006711915.2:c.3864A>C	XP_006711978.1:p.Leu1288Phe
XM_011532473.1:c.3867A>C	XP_011530775.1:p.Leu1289Phe
XM_011532474.1:c.3942A>C	XP_011530776.1:p.Leu1314Phe
XM_017003117.1:c.3789A>C	XP_016858606.1:p.Leu1263Phe
XR_002958896.1:n.3984A>C
NM_133259.4:c.3942A>C MANE Select	NP_573566.2:p.Leu1314Phe