Canonical Allele Identifier: CA346668539

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145465T>G (hg19) ; chr2:g.43918326T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918326T>G , CM000664.2:g.43918326T>G	GRCh38
NC_000002.11:g.44145465T>G , CM000664.1:g.44145465T>G	GRCh37
NC_000002.10:g.43998969T>G	NCBI36
NG_008247.1:g.82680A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.521A>C
ENST00000682295.1:c.233A>C	ENSP00000507499.1:p.Glu78Ala
ENST00000682303.1:c.*2755A>C	ENSP00000508325.1:n.*2755A>C
ENST00000682308.1:c.2969A>C	ENSP00000507056.1:p.Glu990Ala
ENST00000682480.1:c.2969A>C	ENSP00000508344.1:p.Glu990Ala
ENST00000682546.1:c.2966A>C	ENSP00000508188.1:p.Glu989Ala
ENST00000682585.1:c.2969A>C	ENSP00000506885.1:p.Glu990Ala
ENST00000682595.1:n.3553A>C
ENST00000682607.1:c.1387A>C
ENST00000682779.1:c.2960A>C	ENSP00000507947.1:p.Glu987Ala
ENST00000682845.1:n.2071A>C
ENST00000682885.1:c.2924A>C	ENSP00000508036.1:p.Glu975Ala
ENST00000682933.1:n.3043A>C
ENST00000683072.1:n.3553A>C
ENST00000683080.1:n.588A>C
ENST00000683125.1:c.3077A>C	ENSP00000507939.1:p.Glu1026Ala
ENST00000683213.1:c.2972A>C	ENSP00000507751.1:p.Glu991Ala
ENST00000683220.1:c.2999A>C	ENSP00000507151.1:p.Glu1000Ala
ENST00000683236.1:c.299A>C	ENSP00000506891.1:n.299A>C
ENST00000683329.1:n.3772A>C
ENST00000683346.1:c.*2844A>C	ENSP00000507458.1:n.*2844A>C
ENST00000683409.1:n.1576A>C
ENST00000683459.1:n.3556A>C
ENST00000683590.1:c.2897-5768A>C	ENSP00000506820.1:n.2897-5768A>C
ENST00000683623.1:c.2876A>C	ENSP00000507702.1:p.Glu959Ala
ENST00000683645.1:n.3520A>C
ENST00000683796.1:c.*2841A>C	ENSP00000508221.1:n.*2841A>C
ENST00000683802.1:n.5894A>C
ENST00000683833.1:c.2960A>C	ENSP00000506852.1:p.Glu987Ala
ENST00000683994.1:c.2969A>C	ENSP00000507181.1:p.Glu990Ala
ENST00000684290.1:c.*505A>C	ENSP00000507243.1:n.*505A>C
ENST00000684306.1:c.*2882A>C	ENSP00000508384.1:n.*2882A>C
ENST00000684341.1:n.2989A>C
ENST00000684383.1:c.*2607A>C	ENSP00000506863.1:n.*2607A>C
ENST00000684619.1:c.*2841A>C	ENSP00000508088.1:n.*2841A>C
ENST00000684705.1:n.90A>C
ENST00000684743.1:n.4000A>C
ENST00000260665.12:c.2969A>C MANE Select	ENSP00000260665.7:p.Glu990Ala
ENST00000260665.11:c.2969A>C	ENSP00000260665.7:p.Glu990Ala
NM_133259.3:c.2969A>C	NP_573566.2:p.Glu990Ala
XM_006711915.2:c.2891A>C	XP_006711978.1:p.Glu964Ala
XM_006711916.2:c.2969A>C	XP_006711979.1:p.Glu990Ala
XM_011532473.1:c.2969A>C	XP_011530775.1:p.Glu990Ala
XM_011532474.1:c.2969A>C	XP_011530776.1:p.Glu990Ala
XM_006711916.3:c.2969A>C	XP_006711979.1:p.Glu990Ala
XM_017003117.1:c.2891A>C	XP_016858606.1:p.Glu964Ala
XR_002958896.1:n.3011A>C
NM_133259.4:c.2969A>C MANE Select	NP_573566.2:p.Glu990Ala