Canonical Allele Identifier: CA1638209

Gene: LRPPRC

Linked Data

• dbSNP Id: rs752304265
• ExAC: 2:44145250 T / C
• gnomAD v2: 2-44145250-T-C
• gnomAD v3: 2-43918111-T-C
• gnomAD v4: 2-43918111-T-C
• MyVariant Identifiers: chr2:g.44145250T>C (hg19) ; chr2:g.43918111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918111T>C , CM000664.2:g.43918111T>C	GRCh38
NC_000002.11:g.44145250T>C , CM000664.1:g.44145250T>C	GRCh37
NC_000002.10:g.43998754T>C	NCBI36
NG_008247.1:g.82895A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.614A>G
ENST00000682295.1:c.303+145A>G	ENSP00000507499.1:n.303+145A>G
ENST00000682303.1:c.*2848A>G	ENSP00000508325.1:n.*2848A>G
ENST00000682308.1:c.3062A>G	ENSP00000507056.1:p.His1021Arg
ENST00000682480.1:c.3080A>G	ENSP00000508344.1:p.His1027Arg
ENST00000682546.1:c.3059A>G	ENSP00000508188.1:p.His1020Arg
ENST00000682585.1:c.3062A>G	ENSP00000506885.1:p.His1021Arg
ENST00000682595.1:n.3646A>G
ENST00000682607.1:c.1480A>G
ENST00000682779.1:c.3053A>G	ENSP00000507947.1:p.His1018Arg
ENST00000682845.1:n.2164A>G
ENST00000682885.1:c.3017A>G	ENSP00000508036.1:p.His1006Arg
ENST00000682933.1:n.3136A>G
ENST00000683072.1:n.3646A>G
ENST00000683080.1:n.681A>G
ENST00000683125.1:c.3170A>G	ENSP00000507939.1:p.His1057Arg
ENST00000683213.1:c.3065A>G	ENSP00000507751.1:p.His1022Arg
ENST00000683220.1:c.3092A>G	ENSP00000507151.1:p.His1031Arg
ENST00000683329.1:n.3865A>G
ENST00000683346.1:c.*2937A>G	ENSP00000507458.1:n.*2937A>G
ENST00000683409.1:n.1669A>G
ENST00000683459.1:n.3649A>G
ENST00000683590.1:c.2897-5553A>G	ENSP00000506820.1:n.2897-5553A>G
ENST00000683623.1:c.2969A>G	ENSP00000507702.1:p.His990Arg
ENST00000683645.1:n.3613A>G
ENST00000683796.1:c.*2934A>G	ENSP00000508221.1:n.*2934A>G
ENST00000683802.1:n.5987A>G
ENST00000683833.1:c.3053A>G	ENSP00000506852.1:p.His1018Arg
ENST00000683994.1:c.3062A>G	ENSP00000507181.1:p.His1021Arg
ENST00000684290.1:c.*598A>G	ENSP00000507243.1:n.*598A>G
ENST00000684306.1:c.*2975A>G	ENSP00000508384.1:n.*2975A>G
ENST00000684341.1:n.3082A>G
ENST00000684383.1:c.*2700A>G	ENSP00000506863.1:n.*2700A>G
ENST00000684619.1:c.*2934A>G	ENSP00000508088.1:n.*2934A>G
ENST00000684705.1:n.183A>G
ENST00000684743.1:n.4093A>G
ENST00000260665.12:c.3062A>G MANE Select	ENSP00000260665.7:p.His1021Arg
ENST00000260665.11:c.3062A>G	ENSP00000260665.7:p.His1021Arg
NM_133259.3:c.3062A>G	NP_573566.2:p.His1021Arg
XM_006711915.2:c.2984A>G	XP_006711978.1:p.His995Arg
XM_006711916.2:c.3062A>G	XP_006711979.1:p.His1021Arg
XM_011532473.1:c.3062A>G	XP_011530775.1:p.His1021Arg
XM_011532474.1:c.3062A>G	XP_011530776.1:p.His1021Arg
XM_006711916.3:c.3062A>G	XP_006711979.1:p.His1021Arg
XM_017003117.1:c.2984A>G	XP_016858606.1:p.His995Arg
XR_002958896.1:n.3104A>G
NM_133259.4:c.3062A>G MANE Select	NP_573566.2:p.His1021Arg