Canonical Allele Identifier: CA346668367

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145271A>T (hg19) ; chr2:g.43918132A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918132A>T , CM000664.2:g.43918132A>T	GRCh38
NC_000002.11:g.44145271A>T , CM000664.1:g.44145271A>T	GRCh37
NC_000002.10:g.43998775A>T	NCBI36
NG_008247.1:g.82874T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.593T>A
ENST00000682295.1:c.303+124T>A	ENSP00000507499.1:n.303+124T>A
ENST00000682303.1:c.*2827T>A	ENSP00000508325.1:n.*2827T>A
ENST00000682308.1:c.3041T>A	ENSP00000507056.1:p.Leu1014Ter
ENST00000682480.1:c.3059T>A	ENSP00000508344.1:p.Leu1020Ter
ENST00000682546.1:c.3038T>A	ENSP00000508188.1:p.Leu1013Ter
ENST00000682585.1:c.3041T>A	ENSP00000506885.1:p.Leu1014Ter
ENST00000682595.1:n.3625T>A
ENST00000682607.1:c.1459T>A
ENST00000682779.1:c.3032T>A	ENSP00000507947.1:p.Leu1011Ter
ENST00000682845.1:n.2143T>A
ENST00000682885.1:c.2996T>A	ENSP00000508036.1:p.Leu999Ter
ENST00000682933.1:n.3115T>A
ENST00000683072.1:n.3625T>A
ENST00000683080.1:n.660T>A
ENST00000683125.1:c.3149T>A	ENSP00000507939.1:p.Leu1050Ter
ENST00000683213.1:c.3044T>A	ENSP00000507751.1:p.Leu1015Ter
ENST00000683220.1:c.3071T>A	ENSP00000507151.1:p.Leu1024Ter
ENST00000683329.1:n.3844T>A
ENST00000683346.1:c.*2916T>A	ENSP00000507458.1:n.*2916T>A
ENST00000683409.1:n.1648T>A
ENST00000683459.1:n.3628T>A
ENST00000683590.1:c.2897-5574T>A	ENSP00000506820.1:n.2897-5574T>A
ENST00000683623.1:c.2948T>A	ENSP00000507702.1:p.Leu983Ter
ENST00000683645.1:n.3592T>A
ENST00000683796.1:c.*2913T>A	ENSP00000508221.1:n.*2913T>A
ENST00000683802.1:n.5966T>A
ENST00000683833.1:c.3032T>A	ENSP00000506852.1:p.Leu1011Ter
ENST00000683994.1:c.3041T>A	ENSP00000507181.1:p.Leu1014Ter
ENST00000684290.1:c.*577T>A	ENSP00000507243.1:n.*577T>A
ENST00000684306.1:c.*2954T>A	ENSP00000508384.1:n.*2954T>A
ENST00000684341.1:n.3061T>A
ENST00000684383.1:c.*2679T>A	ENSP00000506863.1:n.*2679T>A
ENST00000684619.1:c.*2913T>A	ENSP00000508088.1:n.*2913T>A
ENST00000684705.1:n.162T>A
ENST00000684743.1:n.4072T>A
ENST00000260665.12:c.3041T>A MANE Select	ENSP00000260665.7:p.Leu1014Ter
ENST00000260665.11:c.3041T>A	ENSP00000260665.7:p.Leu1014Ter
NM_133259.3:c.3041T>A	NP_573566.2:p.Leu1014Ter
XM_006711915.2:c.2963T>A	XP_006711978.1:p.Leu988Ter
XM_006711916.2:c.3041T>A	XP_006711979.1:p.Leu1014Ter
XM_011532473.1:c.3041T>A	XP_011530775.1:p.Leu1014Ter
XM_011532474.1:c.3041T>A	XP_011530776.1:p.Leu1014Ter
XM_006711916.3:c.3041T>A	XP_006711979.1:p.Leu1014Ter
XM_017003117.1:c.2963T>A	XP_016858606.1:p.Leu988Ter
XR_002958896.1:n.3083T>A
NM_133259.4:c.3041T>A MANE Select	NP_573566.2:p.Leu1014Ter