Canonical Allele Identifier: CA346676462

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126394A>C (hg19) ; chr2:g.43899255A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899255A>C , CM000664.2:g.43899255A>C	GRCh38
NC_000002.11:g.44126394A>C , CM000664.1:g.44126394A>C	GRCh37
NC_000002.10:g.43979898A>C	NCBI36
NG_008247.1:g.101751T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.220T>G
ENST00000472420.6:n.868T>G
ENST00000483489.2:n.220T>G
ENST00000681993.1:n.1341T>G
ENST00000682303.1:c.*3575T>G	ENSP00000508325.1:n.*3575T>G
ENST00000682308.1:c.3789T>G	ENSP00000507056.1:p.Asp1263Glu
ENST00000682434.1:n.1340T>G
ENST00000682480.1:c.3807T>G	ENSP00000508344.1:p.Asp1269Glu
ENST00000682546.1:c.3786T>G	ENSP00000508188.1:p.Asp1262Glu
ENST00000682585.1:c.3789T>G	ENSP00000506885.1:p.Asp1263Glu
ENST00000682595.1:n.4373T>G
ENST00000682607.1:c.2207T>G
ENST00000682612.1:c.641T>G
ENST00000682779.1:c.3780T>G	ENSP00000507947.1:p.Asp1260Glu
ENST00000682845.1:n.2891T>G
ENST00000682885.1:c.3744T>G	ENSP00000508036.1:p.Asp1248Glu
ENST00000682933.1:n.3863T>G
ENST00000683002.1:c.641T>G
ENST00000683072.1:n.4373T>G
ENST00000683080.1:n.1408T>G
ENST00000683125.1:c.3897T>G	ENSP00000507939.1:p.Asp1299Glu
ENST00000683213.1:c.3792T>G	ENSP00000507751.1:p.Asp1264Glu
ENST00000683220.1:c.3819T>G	ENSP00000507151.1:p.Asp1273Glu
ENST00000683329.1:n.4592T>G
ENST00000683346.1:c.*3664T>G	ENSP00000507458.1:n.*3664T>G
ENST00000683409.1:n.2396T>G
ENST00000683459.1:n.4376T>G
ENST00000683528.1:c.717T>G
ENST00000683590.1:c.3537T>G	ENSP00000506820.1:p.Asp1179Glu
ENST00000683623.1:c.3696T>G	ENSP00000507702.1:p.Asp1232Glu
ENST00000683645.1:n.4340T>G
ENST00000683796.1:c.*3661T>G	ENSP00000508221.1:n.*3661T>G
ENST00000683802.1:n.6714T>G
ENST00000683833.1:c.3780T>G	ENSP00000506852.1:p.Asp1260Glu
ENST00000683994.1:c.3789T>G	ENSP00000507181.1:p.Asp1263Glu
ENST00000684290.1:c.*1325T>G	ENSP00000507243.1:n.*1325T>G
ENST00000684306.1:c.*3702T>G	ENSP00000508384.1:n.*3702T>G
ENST00000684341.1:n.3809T>G
ENST00000684383.1:c.*3427T>G	ENSP00000506863.1:n.*3427T>G
ENST00000684418.1:n.4970T>G
ENST00000684433.1:n.173T>G
ENST00000684454.1:n.3139T>G
ENST00000684619.1:c.*3661T>G	ENSP00000508088.1:n.*3661T>G
ENST00000684743.1:n.6534T>G
ENST00000260665.12:c.3789T>G MANE Select	ENSP00000260665.7:p.Asp1263Glu
ENST00000260665.11:c.3789T>G	ENSP00000260665.7:p.Asp1263Glu
ENST00000419884.5:c.30T>G	ENSP00000414207.1:p.Asp10Glu
ENST00000463456.5:n.2832T>G
ENST00000472420.5:n.186T>G
ENST00000483489.1:n.263T>G
NM_133259.3:c.3789T>G	NP_573566.2:p.Asp1263Glu
XM_006711915.2:c.3711T>G	XP_006711978.1:p.Asp1237Glu
XM_011532473.1:c.3789T>G	XP_011530775.1:p.Asp1263Glu
XM_011532474.1:c.3789T>G	XP_011530776.1:p.Asp1263Glu
XM_017003117.1:c.3711T>G	XP_016858606.1:p.Asp1237Glu
XR_002958896.1:n.3831T>G
NM_133259.4:c.3789T>G MANE Select	NP_573566.2:p.Asp1263Glu