Canonical Allele Identifier: CA346668517

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145455T>A (hg19) ; chr2:g.43918316T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918316T>A , CM000664.2:g.43918316T>A	GRCh38
NC_000002.11:g.44145455T>A , CM000664.1:g.44145455T>A	GRCh37
NC_000002.10:g.43998959T>A	NCBI36
NG_008247.1:g.82690A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.531A>T
ENST00000682295.1:c.243A>T	ENSP00000507499.1:p.Leu81Phe
ENST00000682303.1:c.*2765A>T	ENSP00000508325.1:n.*2765A>T
ENST00000682308.1:c.2979A>T	ENSP00000507056.1:p.Leu993Phe
ENST00000682480.1:c.2979A>T	ENSP00000508344.1:p.Leu993Phe
ENST00000682546.1:c.2976A>T	ENSP00000508188.1:p.Leu992Phe
ENST00000682585.1:c.2979A>T	ENSP00000506885.1:p.Leu993Phe
ENST00000682595.1:n.3563A>T
ENST00000682607.1:c.1397A>T
ENST00000682779.1:c.2970A>T	ENSP00000507947.1:p.Leu990Phe
ENST00000682845.1:n.2081A>T
ENST00000682885.1:c.2934A>T	ENSP00000508036.1:p.Leu978Phe
ENST00000682933.1:n.3053A>T
ENST00000683072.1:n.3563A>T
ENST00000683080.1:n.598A>T
ENST00000683125.1:c.3087A>T	ENSP00000507939.1:p.Leu1029Phe
ENST00000683213.1:c.2982A>T	ENSP00000507751.1:p.Leu994Phe
ENST00000683220.1:c.3009A>T	ENSP00000507151.1:p.Leu1003Phe
ENST00000683236.1:c.309A>T	ENSP00000506891.1:n.309A>T
ENST00000683329.1:n.3782A>T
ENST00000683346.1:c.*2854A>T	ENSP00000507458.1:n.*2854A>T
ENST00000683409.1:n.1586A>T
ENST00000683459.1:n.3566A>T
ENST00000683590.1:c.2897-5758A>T	ENSP00000506820.1:n.2897-5758A>T
ENST00000683623.1:c.2886A>T	ENSP00000507702.1:p.Leu962Phe
ENST00000683645.1:n.3530A>T
ENST00000683796.1:c.*2851A>T	ENSP00000508221.1:n.*2851A>T
ENST00000683802.1:n.5904A>T
ENST00000683833.1:c.2970A>T	ENSP00000506852.1:p.Leu990Phe
ENST00000683994.1:c.2979A>T	ENSP00000507181.1:p.Leu993Phe
ENST00000684290.1:c.*515A>T	ENSP00000507243.1:n.*515A>T
ENST00000684306.1:c.*2892A>T	ENSP00000508384.1:n.*2892A>T
ENST00000684341.1:n.2999A>T
ENST00000684383.1:c.*2617A>T	ENSP00000506863.1:n.*2617A>T
ENST00000684619.1:c.*2851A>T	ENSP00000508088.1:n.*2851A>T
ENST00000684705.1:n.100A>T
ENST00000684743.1:n.4010A>T
ENST00000260665.12:c.2979A>T MANE Select	ENSP00000260665.7:p.Leu993Phe
ENST00000260665.11:c.2979A>T	ENSP00000260665.7:p.Leu993Phe
NM_133259.3:c.2979A>T	NP_573566.2:p.Leu993Phe
XM_006711915.2:c.2901A>T	XP_006711978.1:p.Leu967Phe
XM_006711916.2:c.2979A>T	XP_006711979.1:p.Leu993Phe
XM_011532473.1:c.2979A>T	XP_011530775.1:p.Leu993Phe
XM_011532474.1:c.2979A>T	XP_011530776.1:p.Leu993Phe
XM_006711916.3:c.2979A>T	XP_006711979.1:p.Leu993Phe
XM_017003117.1:c.2901A>T	XP_016858606.1:p.Leu967Phe
XR_002958896.1:n.3021A>T
NM_133259.4:c.2979A>T MANE Select	NP_573566.2:p.Leu993Phe