Canonical Allele Identifier: CA346668276

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918114-T-C
• MyVariant Identifiers: chr2:g.44145253T>C (hg19) ; chr2:g.43918114T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918114T>C , CM000664.2:g.43918114T>C	GRCh38
NC_000002.11:g.44145253T>C , CM000664.1:g.44145253T>C	GRCh37
NC_000002.10:g.43998757T>C	NCBI36
NG_008247.1:g.82892A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.611A>G
ENST00000682295.1:c.303+142A>G	ENSP00000507499.1:n.303+142A>G
ENST00000682303.1:c.*2845A>G	ENSP00000508325.1:n.*2845A>G
ENST00000682308.1:c.3059A>G	ENSP00000507056.1:p.Lys1020Arg
ENST00000682480.1:c.3077A>G	ENSP00000508344.1:p.Lys1026Arg
ENST00000682546.1:c.3056A>G	ENSP00000508188.1:p.Lys1019Arg
ENST00000682585.1:c.3059A>G	ENSP00000506885.1:p.Lys1020Arg
ENST00000682595.1:n.3643A>G
ENST00000682607.1:c.1477A>G
ENST00000682779.1:c.3050A>G	ENSP00000507947.1:p.Lys1017Arg
ENST00000682845.1:n.2161A>G
ENST00000682885.1:c.3014A>G	ENSP00000508036.1:p.Lys1005Arg
ENST00000682933.1:n.3133A>G
ENST00000683072.1:n.3643A>G
ENST00000683080.1:n.678A>G
ENST00000683125.1:c.3167A>G	ENSP00000507939.1:p.Lys1056Arg
ENST00000683213.1:c.3062A>G	ENSP00000507751.1:p.Lys1021Arg
ENST00000683220.1:c.3089A>G	ENSP00000507151.1:p.Lys1030Arg
ENST00000683329.1:n.3862A>G
ENST00000683346.1:c.*2934A>G	ENSP00000507458.1:n.*2934A>G
ENST00000683409.1:n.1666A>G
ENST00000683459.1:n.3646A>G
ENST00000683590.1:c.2897-5556A>G	ENSP00000506820.1:n.2897-5556A>G
ENST00000683623.1:c.2966A>G	ENSP00000507702.1:p.Lys989Arg
ENST00000683645.1:n.3610A>G
ENST00000683796.1:c.*2931A>G	ENSP00000508221.1:n.*2931A>G
ENST00000683802.1:n.5984A>G
ENST00000683833.1:c.3050A>G	ENSP00000506852.1:p.Lys1017Arg
ENST00000683994.1:c.3059A>G	ENSP00000507181.1:p.Lys1020Arg
ENST00000684290.1:c.*595A>G	ENSP00000507243.1:n.*595A>G
ENST00000684306.1:c.*2972A>G	ENSP00000508384.1:n.*2972A>G
ENST00000684341.1:n.3079A>G
ENST00000684383.1:c.*2697A>G	ENSP00000506863.1:n.*2697A>G
ENST00000684619.1:c.*2931A>G	ENSP00000508088.1:n.*2931A>G
ENST00000684705.1:n.180A>G
ENST00000684743.1:n.4090A>G
ENST00000260665.12:c.3059A>G MANE Select	ENSP00000260665.7:p.Lys1020Arg
ENST00000260665.11:c.3059A>G	ENSP00000260665.7:p.Lys1020Arg
NM_133259.3:c.3059A>G	NP_573566.2:p.Lys1020Arg
XM_006711915.2:c.2981A>G	XP_006711978.1:p.Lys994Arg
XM_006711916.2:c.3059A>G	XP_006711979.1:p.Lys1020Arg
XM_011532473.1:c.3059A>G	XP_011530775.1:p.Lys1020Arg
XM_011532474.1:c.3059A>G	XP_011530776.1:p.Lys1020Arg
XM_006711916.3:c.3059A>G	XP_006711979.1:p.Lys1020Arg
XM_017003117.1:c.2981A>G	XP_016858606.1:p.Lys994Arg
XR_002958896.1:n.3101A>G
NM_133259.4:c.3059A>G MANE Select	NP_573566.2:p.Lys1020Arg