Canonical Allele Identifier: CA346665108

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132909G>C (hg19) ; chr2:g.43905770G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905770G>C , CM000664.2:g.43905770G>C	GRCh38
NC_000002.11:g.44132909G>C , CM000664.1:g.44132909G>C	GRCh37
NC_000002.10:g.43986413G>C	NCBI36
NG_008247.1:g.95236C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.365C>G
ENST00000681993.1:n.838C>G
ENST00000682295.1:c.441C>G	ENSP00000507499.1:n.441C>G
ENST00000682303.1:c.*3072C>G	ENSP00000508325.1:n.*3072C>G
ENST00000682308.1:c.3286C>G	ENSP00000507056.1:p.His1096Asp
ENST00000682480.1:c.3304C>G	ENSP00000508344.1:p.His1102Asp
ENST00000682546.1:c.3283C>G	ENSP00000508188.1:p.His1095Asp
ENST00000682585.1:c.3286C>G	ENSP00000506885.1:p.His1096Asp
ENST00000682595.1:n.3870C>G
ENST00000682607.1:c.1704C>G
ENST00000682612.1:c.138C>G
ENST00000682779.1:c.3277C>G	ENSP00000507947.1:p.His1093Asp
ENST00000682845.1:n.2388C>G
ENST00000682885.1:c.3241C>G	ENSP00000508036.1:p.His1081Asp
ENST00000682933.1:n.3360C>G
ENST00000683002.1:c.138C>G
ENST00000683072.1:n.3870C>G
ENST00000683080.1:n.905C>G
ENST00000683125.1:c.3394C>G	ENSP00000507939.1:p.His1132Asp
ENST00000683213.1:c.3289C>G	ENSP00000507751.1:p.His1097Asp
ENST00000683220.1:c.3316C>G	ENSP00000507151.1:p.His1106Asp
ENST00000683329.1:n.4089C>G
ENST00000683346.1:c.*3161C>G	ENSP00000507458.1:n.*3161C>G
ENST00000683409.1:n.1893C>G
ENST00000683459.1:n.3873C>G
ENST00000683528.1:c.138C>G
ENST00000683590.1:c.3034C>G	ENSP00000506820.1:p.His1012Asp
ENST00000683623.1:c.3193C>G	ENSP00000507702.1:p.His1065Asp
ENST00000683645.1:n.3837C>G
ENST00000683796.1:c.*3158C>G	ENSP00000508221.1:n.*3158C>G
ENST00000683802.1:n.6211C>G
ENST00000683833.1:c.3277C>G	ENSP00000506852.1:p.His1093Asp
ENST00000683994.1:c.3286C>G	ENSP00000507181.1:p.His1096Asp
ENST00000684290.1:c.*822C>G	ENSP00000507243.1:n.*822C>G
ENST00000684306.1:c.*3199C>G	ENSP00000508384.1:n.*3199C>G
ENST00000684341.1:n.3306C>G
ENST00000684383.1:c.*2924C>G	ENSP00000506863.1:n.*2924C>G
ENST00000684418.1:n.4467C>G
ENST00000684454.1:n.2636C>G
ENST00000684619.1:c.*3158C>G	ENSP00000508088.1:n.*3158C>G
ENST00000684743.1:n.4317C>G
ENST00000260665.12:c.3286C>G MANE Select	ENSP00000260665.7:p.His1096Asp
ENST00000260665.11:c.3286C>G	ENSP00000260665.7:p.His1096Asp
NM_133259.3:c.3286C>G	NP_573566.2:p.His1096Asp
XM_006711915.2:c.3208C>G	XP_006711978.1:p.His1070Asp
XM_011532473.1:c.3286C>G	XP_011530775.1:p.His1096Asp
XM_011532474.1:c.3286C>G	XP_011530776.1:p.His1096Asp
XM_017003117.1:c.3208C>G	XP_016858606.1:p.His1070Asp
XR_002958896.1:n.3328C>G
NM_133259.4:c.3286C>G MANE Select	NP_573566.2:p.His1096Asp