Canonical Allele Identifier: CA346668130

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145220G>C (hg19) ; chr2:g.43918081G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918081G>C , CM000664.2:g.43918081G>C	GRCh38
NC_000002.11:g.44145220G>C , CM000664.1:g.44145220G>C	GRCh37
NC_000002.10:g.43998724G>C	NCBI36
NG_008247.1:g.82925C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.644C>G
ENST00000682295.1:c.303+175C>G	ENSP00000507499.1:n.303+175C>G
ENST00000682303.1:c.*2878C>G	ENSP00000508325.1:n.*2878C>G
ENST00000682308.1:c.3092C>G	ENSP00000507056.1:p.Thr1031Arg
ENST00000682480.1:c.3110C>G	ENSP00000508344.1:p.Thr1037Arg
ENST00000682546.1:c.3089C>G	ENSP00000508188.1:p.Thr1030Arg
ENST00000682585.1:c.3092C>G	ENSP00000506885.1:p.Thr1031Arg
ENST00000682595.1:n.3676C>G
ENST00000682607.1:c.1510C>G
ENST00000682779.1:c.3083C>G	ENSP00000507947.1:p.Thr1028Arg
ENST00000682845.1:n.2194C>G
ENST00000682885.1:c.3047C>G	ENSP00000508036.1:p.Thr1016Arg
ENST00000682933.1:n.3166C>G
ENST00000683072.1:n.3676C>G
ENST00000683080.1:n.711C>G
ENST00000683125.1:c.3200C>G	ENSP00000507939.1:p.Thr1067Arg
ENST00000683213.1:c.3095C>G	ENSP00000507751.1:p.Thr1032Arg
ENST00000683220.1:c.3122C>G	ENSP00000507151.1:p.Thr1041Arg
ENST00000683329.1:n.3895C>G
ENST00000683346.1:c.*2967C>G	ENSP00000507458.1:n.*2967C>G
ENST00000683409.1:n.1699C>G
ENST00000683459.1:n.3679C>G
ENST00000683590.1:c.2897-5523C>G	ENSP00000506820.1:n.2897-5523C>G
ENST00000683623.1:c.2999C>G	ENSP00000507702.1:p.Thr1000Arg
ENST00000683645.1:n.3643C>G
ENST00000683796.1:c.*2964C>G	ENSP00000508221.1:n.*2964C>G
ENST00000683802.1:n.6017C>G
ENST00000683833.1:c.3083C>G	ENSP00000506852.1:p.Thr1028Arg
ENST00000683994.1:c.3092C>G	ENSP00000507181.1:p.Thr1031Arg
ENST00000684290.1:c.*628C>G	ENSP00000507243.1:n.*628C>G
ENST00000684306.1:c.*3005C>G	ENSP00000508384.1:n.*3005C>G
ENST00000684341.1:n.3112C>G
ENST00000684383.1:c.*2730C>G	ENSP00000506863.1:n.*2730C>G
ENST00000684619.1:c.*2964C>G	ENSP00000508088.1:n.*2964C>G
ENST00000684705.1:n.213C>G
ENST00000684743.1:n.4123C>G
ENST00000260665.12:c.3092C>G MANE Select	ENSP00000260665.7:p.Thr1031Arg
ENST00000260665.11:c.3092C>G	ENSP00000260665.7:p.Thr1031Arg
NM_133259.3:c.3092C>G	NP_573566.2:p.Thr1031Arg
XM_006711915.2:c.3014C>G	XP_006711978.1:p.Thr1005Arg
XM_006711916.2:c.3092C>G	XP_006711979.1:p.Thr1031Arg
XM_011532473.1:c.3092C>G	XP_011530775.1:p.Thr1031Arg
XM_011532474.1:c.3092C>G	XP_011530776.1:p.Thr1031Arg
XM_006711916.3:c.3092C>G	XP_006711979.1:p.Thr1031Arg
XM_017003117.1:c.3014C>G	XP_016858606.1:p.Thr1005Arg
XR_002958896.1:n.3134C>G
NM_133259.4:c.3092C>G MANE Select	NP_573566.2:p.Thr1031Arg