Canonical Allele Identifier: CA346665067

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132890A>C (hg19) ; chr2:g.43905751A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905751A>C , CM000664.2:g.43905751A>C	GRCh38
NC_000002.11:g.44132890A>C , CM000664.1:g.44132890A>C	GRCh37
NC_000002.10:g.43986394A>C	NCBI36
NG_008247.1:g.95255T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.384T>G
ENST00000681993.1:n.857T>G
ENST00000682295.1:c.460T>G	ENSP00000507499.1:n.460T>G
ENST00000682303.1:c.*3091T>G	ENSP00000508325.1:n.*3091T>G
ENST00000682308.1:c.3305T>G	ENSP00000507056.1:p.Leu1102Arg
ENST00000682480.1:c.3323T>G	ENSP00000508344.1:p.Leu1108Arg
ENST00000682546.1:c.3302T>G	ENSP00000508188.1:p.Leu1101Arg
ENST00000682585.1:c.3305T>G	ENSP00000506885.1:p.Leu1102Arg
ENST00000682595.1:n.3889T>G
ENST00000682607.1:c.1723T>G
ENST00000682612.1:c.157T>G
ENST00000682779.1:c.3296T>G	ENSP00000507947.1:p.Leu1099Arg
ENST00000682845.1:n.2407T>G
ENST00000682885.1:c.3260T>G	ENSP00000508036.1:p.Leu1087Arg
ENST00000682933.1:n.3379T>G
ENST00000683002.1:c.157T>G
ENST00000683072.1:n.3889T>G
ENST00000683080.1:n.924T>G
ENST00000683125.1:c.3413T>G	ENSP00000507939.1:p.Leu1138Arg
ENST00000683213.1:c.3308T>G	ENSP00000507751.1:p.Leu1103Arg
ENST00000683220.1:c.3335T>G	ENSP00000507151.1:p.Leu1112Arg
ENST00000683329.1:n.4108T>G
ENST00000683346.1:c.*3180T>G	ENSP00000507458.1:n.*3180T>G
ENST00000683409.1:n.1912T>G
ENST00000683459.1:n.3892T>G
ENST00000683528.1:c.157T>G
ENST00000683590.1:c.3053T>G	ENSP00000506820.1:p.Leu1018Arg
ENST00000683623.1:c.3212T>G	ENSP00000507702.1:p.Leu1071Arg
ENST00000683645.1:n.3856T>G
ENST00000683796.1:c.*3177T>G	ENSP00000508221.1:n.*3177T>G
ENST00000683802.1:n.6230T>G
ENST00000683833.1:c.3296T>G	ENSP00000506852.1:p.Leu1099Arg
ENST00000683994.1:c.3305T>G	ENSP00000507181.1:p.Leu1102Arg
ENST00000684290.1:c.*841T>G	ENSP00000507243.1:n.*841T>G
ENST00000684306.1:c.*3218T>G	ENSP00000508384.1:n.*3218T>G
ENST00000684341.1:n.3325T>G
ENST00000684383.1:c.*2943T>G	ENSP00000506863.1:n.*2943T>G
ENST00000684418.1:n.4486T>G
ENST00000684454.1:n.2655T>G
ENST00000684619.1:c.*3177T>G	ENSP00000508088.1:n.*3177T>G
ENST00000684743.1:n.4336T>G
ENST00000260665.12:c.3305T>G MANE Select	ENSP00000260665.7:p.Leu1102Arg
ENST00000260665.11:c.3305T>G	ENSP00000260665.7:p.Leu1102Arg
NM_133259.3:c.3305T>G	NP_573566.2:p.Leu1102Arg
XM_006711915.2:c.3227T>G	XP_006711978.1:p.Leu1076Arg
XM_011532473.1:c.3305T>G	XP_011530775.1:p.Leu1102Arg
XM_011532474.1:c.3305T>G	XP_011530776.1:p.Leu1102Arg
XM_017003117.1:c.3227T>G	XP_016858606.1:p.Leu1076Arg
XR_002958896.1:n.3347T>G
NM_133259.4:c.3305T>G MANE Select	NP_573566.2:p.Leu1102Arg