Canonical Allele Identifier: CA346668600

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145495T>C (hg19) ; chr2:g.43918356T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918356T>C , CM000664.2:g.43918356T>C	GRCh38
NC_000002.11:g.44145495T>C , CM000664.1:g.44145495T>C	GRCh37
NC_000002.10:g.43998999T>C	NCBI36
NG_008247.1:g.82650A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.491A>G
ENST00000682295.1:c.203A>G	ENSP00000507499.1:p.Lys68Arg
ENST00000682303.1:c.*2725A>G	ENSP00000508325.1:n.*2725A>G
ENST00000682308.1:c.2939A>G	ENSP00000507056.1:p.Lys980Arg
ENST00000682480.1:c.2939A>G	ENSP00000508344.1:p.Lys980Arg
ENST00000682546.1:c.2936A>G	ENSP00000508188.1:p.Lys979Arg
ENST00000682585.1:c.2939A>G	ENSP00000506885.1:p.Lys980Arg
ENST00000682595.1:n.3523A>G
ENST00000682607.1:c.1357A>G
ENST00000682779.1:c.2930A>G	ENSP00000507947.1:p.Lys977Arg
ENST00000682845.1:n.2041A>G
ENST00000682885.1:c.2894A>G	ENSP00000508036.1:p.Lys965Arg
ENST00000682933.1:n.3013A>G
ENST00000683072.1:n.3523A>G
ENST00000683080.1:n.558A>G
ENST00000683125.1:c.3047A>G	ENSP00000507939.1:p.Lys1016Arg
ENST00000683213.1:c.2942A>G	ENSP00000507751.1:p.Lys981Arg
ENST00000683220.1:c.2969A>G	ENSP00000507151.1:p.Lys990Arg
ENST00000683236.1:c.269A>G	ENSP00000506891.1:n.269A>G
ENST00000683329.1:n.3742A>G
ENST00000683346.1:c.*2814A>G	ENSP00000507458.1:n.*2814A>G
ENST00000683409.1:n.1546A>G
ENST00000683459.1:n.3526A>G
ENST00000683590.1:c.2897-5798A>G	ENSP00000506820.1:n.2897-5798A>G
ENST00000683623.1:c.2846A>G	ENSP00000507702.1:p.Lys949Arg
ENST00000683645.1:n.3490A>G
ENST00000683796.1:c.*2811A>G	ENSP00000508221.1:n.*2811A>G
ENST00000683802.1:n.5864A>G
ENST00000683833.1:c.2930A>G	ENSP00000506852.1:p.Lys977Arg
ENST00000683994.1:c.2939A>G	ENSP00000507181.1:p.Lys980Arg
ENST00000684290.1:c.*475A>G	ENSP00000507243.1:n.*475A>G
ENST00000684306.1:c.*2852A>G	ENSP00000508384.1:n.*2852A>G
ENST00000684341.1:n.2959A>G
ENST00000684383.1:c.*2577A>G	ENSP00000506863.1:n.*2577A>G
ENST00000684619.1:c.*2811A>G	ENSP00000508088.1:n.*2811A>G
ENST00000684705.1:n.60A>G
ENST00000684743.1:n.3970A>G
ENST00000260665.12:c.2939A>G MANE Select	ENSP00000260665.7:p.Lys980Arg
ENST00000260665.11:c.2939A>G	ENSP00000260665.7:p.Lys980Arg
NM_133259.3:c.2939A>G	NP_573566.2:p.Lys980Arg
XM_006711915.2:c.2861A>G	XP_006711978.1:p.Lys954Arg
XM_006711916.2:c.2939A>G	XP_006711979.1:p.Lys980Arg
XM_011532473.1:c.2939A>G	XP_011530775.1:p.Lys980Arg
XM_011532474.1:c.2939A>G	XP_011530776.1:p.Lys980Arg
XM_006711916.3:c.2939A>G	XP_006711979.1:p.Lys980Arg
XM_017003117.1:c.2861A>G	XP_016858606.1:p.Lys954Arg
XR_002958896.1:n.2981A>G
NM_133259.4:c.2939A>G MANE Select	NP_573566.2:p.Lys980Arg