Canonical Allele Identifier: CA346668576

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145486T>A (hg19) ; chr2:g.43918347T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918347T>A , CM000664.2:g.43918347T>A	GRCh38
NC_000002.11:g.44145486T>A , CM000664.1:g.44145486T>A	GRCh37
NC_000002.10:g.43998990T>A	NCBI36
NG_008247.1:g.82659A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.500A>T
ENST00000682295.1:c.212A>T	ENSP00000507499.1:p.Glu71Val
ENST00000682303.1:c.*2734A>T	ENSP00000508325.1:n.*2734A>T
ENST00000682308.1:c.2948A>T	ENSP00000507056.1:p.Glu983Val
ENST00000682480.1:c.2948A>T	ENSP00000508344.1:p.Glu983Val
ENST00000682546.1:c.2945A>T	ENSP00000508188.1:p.Glu982Val
ENST00000682585.1:c.2948A>T	ENSP00000506885.1:p.Glu983Val
ENST00000682595.1:n.3532A>T
ENST00000682607.1:c.1366A>T
ENST00000682779.1:c.2939A>T	ENSP00000507947.1:p.Glu980Val
ENST00000682845.1:n.2050A>T
ENST00000682885.1:c.2903A>T	ENSP00000508036.1:p.Glu968Val
ENST00000682933.1:n.3022A>T
ENST00000683072.1:n.3532A>T
ENST00000683080.1:n.567A>T
ENST00000683125.1:c.3056A>T	ENSP00000507939.1:p.Glu1019Val
ENST00000683213.1:c.2951A>T	ENSP00000507751.1:p.Glu984Val
ENST00000683220.1:c.2978A>T	ENSP00000507151.1:p.Glu993Val
ENST00000683236.1:c.278A>T	ENSP00000506891.1:n.278A>T
ENST00000683329.1:n.3751A>T
ENST00000683346.1:c.*2823A>T	ENSP00000507458.1:n.*2823A>T
ENST00000683409.1:n.1555A>T
ENST00000683459.1:n.3535A>T
ENST00000683590.1:c.2897-5789A>T	ENSP00000506820.1:n.2897-5789A>T
ENST00000683623.1:c.2855A>T	ENSP00000507702.1:p.Glu952Val
ENST00000683645.1:n.3499A>T
ENST00000683796.1:c.*2820A>T	ENSP00000508221.1:n.*2820A>T
ENST00000683802.1:n.5873A>T
ENST00000683833.1:c.2939A>T	ENSP00000506852.1:p.Glu980Val
ENST00000683994.1:c.2948A>T	ENSP00000507181.1:p.Glu983Val
ENST00000684290.1:c.*484A>T	ENSP00000507243.1:n.*484A>T
ENST00000684306.1:c.*2861A>T	ENSP00000508384.1:n.*2861A>T
ENST00000684341.1:n.2968A>T
ENST00000684383.1:c.*2586A>T	ENSP00000506863.1:n.*2586A>T
ENST00000684619.1:c.*2820A>T	ENSP00000508088.1:n.*2820A>T
ENST00000684705.1:n.69A>T
ENST00000684743.1:n.3979A>T
ENST00000260665.12:c.2948A>T MANE Select	ENSP00000260665.7:p.Glu983Val
ENST00000260665.11:c.2948A>T	ENSP00000260665.7:p.Glu983Val
NM_133259.3:c.2948A>T	NP_573566.2:p.Glu983Val
XM_006711915.2:c.2870A>T	XP_006711978.1:p.Glu957Val
XM_006711916.2:c.2948A>T	XP_006711979.1:p.Glu983Val
XM_011532473.1:c.2948A>T	XP_011530775.1:p.Glu983Val
XM_011532474.1:c.2948A>T	XP_011530776.1:p.Glu983Val
XM_006711916.3:c.2948A>T	XP_006711979.1:p.Glu983Val
XM_017003117.1:c.2870A>T	XP_016858606.1:p.Glu957Val
XR_002958896.1:n.2990A>T
NM_133259.4:c.2948A>T MANE Select	NP_573566.2:p.Glu983Val