Canonical Allele Identifier: CA346668540

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145466C>A (hg19) ; chr2:g.43918327C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918327C>A , CM000664.2:g.43918327C>A	GRCh38
NC_000002.11:g.44145466C>A , CM000664.1:g.44145466C>A	GRCh37
NC_000002.10:g.43998970C>A	NCBI36
NG_008247.1:g.82679G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.520G>T
ENST00000682295.1:c.232G>T	ENSP00000507499.1:p.Glu78Ter
ENST00000682303.1:c.*2754G>T	ENSP00000508325.1:n.*2754G>T
ENST00000682308.1:c.2968G>T	ENSP00000507056.1:p.Glu990Ter
ENST00000682480.1:c.2968G>T	ENSP00000508344.1:p.Glu990Ter
ENST00000682546.1:c.2965G>T	ENSP00000508188.1:p.Glu989Ter
ENST00000682585.1:c.2968G>T	ENSP00000506885.1:p.Glu990Ter
ENST00000682595.1:n.3552G>T
ENST00000682607.1:c.1386G>T
ENST00000682779.1:c.2959G>T	ENSP00000507947.1:p.Glu987Ter
ENST00000682845.1:n.2070G>T
ENST00000682885.1:c.2923G>T	ENSP00000508036.1:p.Glu975Ter
ENST00000682933.1:n.3042G>T
ENST00000683072.1:n.3552G>T
ENST00000683080.1:n.587G>T
ENST00000683125.1:c.3076G>T	ENSP00000507939.1:p.Glu1026Ter
ENST00000683213.1:c.2971G>T	ENSP00000507751.1:p.Glu991Ter
ENST00000683220.1:c.2998G>T	ENSP00000507151.1:p.Glu1000Ter
ENST00000683236.1:c.298G>T	ENSP00000506891.1:n.298G>T
ENST00000683329.1:n.3771G>T
ENST00000683346.1:c.*2843G>T	ENSP00000507458.1:n.*2843G>T
ENST00000683409.1:n.1575G>T
ENST00000683459.1:n.3555G>T
ENST00000683590.1:c.2897-5769G>T	ENSP00000506820.1:n.2897-5769G>T
ENST00000683623.1:c.2875G>T	ENSP00000507702.1:p.Glu959Ter
ENST00000683645.1:n.3519G>T
ENST00000683796.1:c.*2840G>T	ENSP00000508221.1:n.*2840G>T
ENST00000683802.1:n.5893G>T
ENST00000683833.1:c.2959G>T	ENSP00000506852.1:p.Glu987Ter
ENST00000683994.1:c.2968G>T	ENSP00000507181.1:p.Glu990Ter
ENST00000684290.1:c.*504G>T	ENSP00000507243.1:n.*504G>T
ENST00000684306.1:c.*2881G>T	ENSP00000508384.1:n.*2881G>T
ENST00000684341.1:n.2988G>T
ENST00000684383.1:c.*2606G>T	ENSP00000506863.1:n.*2606G>T
ENST00000684619.1:c.*2840G>T	ENSP00000508088.1:n.*2840G>T
ENST00000684705.1:n.89G>T
ENST00000684743.1:n.3999G>T
ENST00000260665.12:c.2968G>T MANE Select	ENSP00000260665.7:p.Glu990Ter
ENST00000260665.11:c.2968G>T	ENSP00000260665.7:p.Glu990Ter
NM_133259.3:c.2968G>T	NP_573566.2:p.Glu990Ter
XM_006711915.2:c.2890G>T	XP_006711978.1:p.Glu964Ter
XM_006711916.2:c.2968G>T	XP_006711979.1:p.Glu990Ter
XM_011532473.1:c.2968G>T	XP_011530775.1:p.Glu990Ter
XM_011532474.1:c.2968G>T	XP_011530776.1:p.Glu990Ter
XM_006711916.3:c.2968G>T	XP_006711979.1:p.Glu990Ter
XM_017003117.1:c.2890G>T	XP_016858606.1:p.Glu964Ter
XR_002958896.1:n.3010G>T
NM_133259.4:c.2968G>T MANE Select	NP_573566.2:p.Glu990Ter