Canonical Allele Identifier: CA346668648

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145517T>C (hg19) ; chr2:g.43918378T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918378T>C , CM000664.2:g.43918378T>C	GRCh38
NC_000002.11:g.44145517T>C , CM000664.1:g.44145517T>C	GRCh37
NC_000002.10:g.43999021T>C	NCBI36
NG_008247.1:g.82628A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.469A>G
ENST00000682295.1:c.181A>G	ENSP00000507499.1:p.Arg61Gly
ENST00000682303.1:c.*2703A>G	ENSP00000508325.1:n.*2703A>G
ENST00000682308.1:c.2917A>G	ENSP00000507056.1:p.Arg973Gly
ENST00000682480.1:c.2917A>G	ENSP00000508344.1:p.Arg973Gly
ENST00000682546.1:c.2914A>G	ENSP00000508188.1:p.Arg972Gly
ENST00000682585.1:c.2917A>G	ENSP00000506885.1:p.Arg973Gly
ENST00000682595.1:n.3501A>G
ENST00000682607.1:c.1335A>G
ENST00000682779.1:c.2908A>G	ENSP00000507947.1:p.Arg970Gly
ENST00000682845.1:n.2019A>G
ENST00000682885.1:c.2872A>G	ENSP00000508036.1:p.Arg958Gly
ENST00000682933.1:n.2991A>G
ENST00000683072.1:n.3501A>G
ENST00000683080.1:n.536A>G
ENST00000683125.1:c.3025A>G	ENSP00000507939.1:p.Arg1009Gly
ENST00000683213.1:c.2920A>G	ENSP00000507751.1:p.Arg974Gly
ENST00000683220.1:c.2947A>G	ENSP00000507151.1:p.Arg983Gly
ENST00000683236.1:c.247A>G	ENSP00000506891.1:n.247A>G
ENST00000683329.1:n.3720A>G
ENST00000683346.1:c.*2792A>G	ENSP00000507458.1:n.*2792A>G
ENST00000683409.1:n.1524A>G
ENST00000683459.1:n.3504A>G
ENST00000683590.1:c.2897-5820A>G	ENSP00000506820.1:n.2897-5820A>G
ENST00000683623.1:c.2824A>G	ENSP00000507702.1:p.Arg942Gly
ENST00000683645.1:n.3468A>G
ENST00000683796.1:c.*2789A>G	ENSP00000508221.1:n.*2789A>G
ENST00000683802.1:n.5842A>G
ENST00000683833.1:c.2908A>G	ENSP00000506852.1:p.Arg970Gly
ENST00000683994.1:c.2917A>G	ENSP00000507181.1:p.Arg973Gly
ENST00000684290.1:c.*453A>G	ENSP00000507243.1:n.*453A>G
ENST00000684306.1:c.*2830A>G	ENSP00000508384.1:n.*2830A>G
ENST00000684341.1:n.2937A>G
ENST00000684383.1:c.*2555A>G	ENSP00000506863.1:n.*2555A>G
ENST00000684619.1:c.*2789A>G	ENSP00000508088.1:n.*2789A>G
ENST00000684705.1:n.38A>G
ENST00000684743.1:n.3948A>G
ENST00000260665.12:c.2917A>G MANE Select	ENSP00000260665.7:p.Arg973Gly
ENST00000260665.11:c.2917A>G	ENSP00000260665.7:p.Arg973Gly
NM_133259.3:c.2917A>G	NP_573566.2:p.Arg973Gly
XM_006711915.2:c.2839A>G	XP_006711978.1:p.Arg947Gly
XM_006711916.2:c.2917A>G	XP_006711979.1:p.Arg973Gly
XM_011532473.1:c.2917A>G	XP_011530775.1:p.Arg973Gly
XM_011532474.1:c.2917A>G	XP_011530776.1:p.Arg973Gly
XM_006711916.3:c.2917A>G	XP_006711979.1:p.Arg973Gly
XM_017003117.1:c.2839A>G	XP_016858606.1:p.Arg947Gly
XR_002958896.1:n.2959A>G
NM_133259.4:c.2917A>G MANE Select	NP_573566.2:p.Arg973Gly