Canonical Allele Identifier: CA346668582

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145488T>G (hg19) ; chr2:g.43918349T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918349T>G , CM000664.2:g.43918349T>G	GRCh38
NC_000002.11:g.44145488T>G , CM000664.1:g.44145488T>G	GRCh37
NC_000002.10:g.43998992T>G	NCBI36
NG_008247.1:g.82657A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.498A>C
ENST00000682295.1:c.210A>C	ENSP00000507499.1:p.Gln70His
ENST00000682303.1:c.*2732A>C	ENSP00000508325.1:n.*2732A>C
ENST00000682308.1:c.2946A>C	ENSP00000507056.1:p.Gln982His
ENST00000682480.1:c.2946A>C	ENSP00000508344.1:p.Gln982His
ENST00000682546.1:c.2943A>C	ENSP00000508188.1:p.Gln981His
ENST00000682585.1:c.2946A>C	ENSP00000506885.1:p.Gln982His
ENST00000682595.1:n.3530A>C
ENST00000682607.1:c.1364A>C
ENST00000682779.1:c.2937A>C	ENSP00000507947.1:p.Gln979His
ENST00000682845.1:n.2048A>C
ENST00000682885.1:c.2901A>C	ENSP00000508036.1:p.Gln967His
ENST00000682933.1:n.3020A>C
ENST00000683072.1:n.3530A>C
ENST00000683080.1:n.565A>C
ENST00000683125.1:c.3054A>C	ENSP00000507939.1:p.Gln1018His
ENST00000683213.1:c.2949A>C	ENSP00000507751.1:p.Gln983His
ENST00000683220.1:c.2976A>C	ENSP00000507151.1:p.Gln992His
ENST00000683236.1:c.276A>C	ENSP00000506891.1:n.276A>C
ENST00000683329.1:n.3749A>C
ENST00000683346.1:c.*2821A>C	ENSP00000507458.1:n.*2821A>C
ENST00000683409.1:n.1553A>C
ENST00000683459.1:n.3533A>C
ENST00000683590.1:c.2897-5791A>C	ENSP00000506820.1:n.2897-5791A>C
ENST00000683623.1:c.2853A>C	ENSP00000507702.1:p.Gln951His
ENST00000683645.1:n.3497A>C
ENST00000683796.1:c.*2818A>C	ENSP00000508221.1:n.*2818A>C
ENST00000683802.1:n.5871A>C
ENST00000683833.1:c.2937A>C	ENSP00000506852.1:p.Gln979His
ENST00000683994.1:c.2946A>C	ENSP00000507181.1:p.Gln982His
ENST00000684290.1:c.*482A>C	ENSP00000507243.1:n.*482A>C
ENST00000684306.1:c.*2859A>C	ENSP00000508384.1:n.*2859A>C
ENST00000684341.1:n.2966A>C
ENST00000684383.1:c.*2584A>C	ENSP00000506863.1:n.*2584A>C
ENST00000684619.1:c.*2818A>C	ENSP00000508088.1:n.*2818A>C
ENST00000684705.1:n.67A>C
ENST00000684743.1:n.3977A>C
ENST00000260665.12:c.2946A>C MANE Select	ENSP00000260665.7:p.Gln982His
ENST00000260665.11:c.2946A>C	ENSP00000260665.7:p.Gln982His
NM_133259.3:c.2946A>C	NP_573566.2:p.Gln982His
XM_006711915.2:c.2868A>C	XP_006711978.1:p.Gln956His
XM_006711916.2:c.2946A>C	XP_006711979.1:p.Gln982His
XM_011532473.1:c.2946A>C	XP_011530775.1:p.Gln982His
XM_011532474.1:c.2946A>C	XP_011530776.1:p.Gln982His
XM_006711916.3:c.2946A>C	XP_006711979.1:p.Gln982His
XM_017003117.1:c.2868A>C	XP_016858606.1:p.Gln956His
XR_002958896.1:n.2988A>C
NM_133259.4:c.2946A>C MANE Select	NP_573566.2:p.Gln982His