Canonical Allele Identifier: CA346665085

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43905760-C-T
• MyVariant Identifiers: chr2:g.44132899C>T (hg19) ; chr2:g.43905760C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905760C>T , CM000664.2:g.43905760C>T	GRCh38
NC_000002.11:g.44132899C>T , CM000664.1:g.44132899C>T	GRCh37
NC_000002.10:g.43986403C>T	NCBI36
NG_008247.1:g.95246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.375G>A
ENST00000681993.1:n.848G>A
ENST00000682295.1:c.451G>A	ENSP00000507499.1:n.451G>A
ENST00000682303.1:c.*3082G>A	ENSP00000508325.1:n.*3082G>A
ENST00000682308.1:c.3296G>A	ENSP00000507056.1:p.Gly1099Asp
ENST00000682480.1:c.3314G>A	ENSP00000508344.1:p.Gly1105Asp
ENST00000682546.1:c.3293G>A	ENSP00000508188.1:p.Gly1098Asp
ENST00000682585.1:c.3296G>A	ENSP00000506885.1:p.Gly1099Asp
ENST00000682595.1:n.3880G>A
ENST00000682607.1:c.1714G>A
ENST00000682612.1:c.148G>A
ENST00000682779.1:c.3287G>A	ENSP00000507947.1:p.Gly1096Asp
ENST00000682845.1:n.2398G>A
ENST00000682885.1:c.3251G>A	ENSP00000508036.1:p.Gly1084Asp
ENST00000682933.1:n.3370G>A
ENST00000683002.1:c.148G>A
ENST00000683072.1:n.3880G>A
ENST00000683080.1:n.915G>A
ENST00000683125.1:c.3404G>A	ENSP00000507939.1:p.Gly1135Asp
ENST00000683213.1:c.3299G>A	ENSP00000507751.1:p.Gly1100Asp
ENST00000683220.1:c.3326G>A	ENSP00000507151.1:p.Gly1109Asp
ENST00000683329.1:n.4099G>A
ENST00000683346.1:c.*3171G>A	ENSP00000507458.1:n.*3171G>A
ENST00000683409.1:n.1903G>A
ENST00000683459.1:n.3883G>A
ENST00000683528.1:c.148G>A
ENST00000683590.1:c.3044G>A	ENSP00000506820.1:p.Gly1015Asp
ENST00000683623.1:c.3203G>A	ENSP00000507702.1:p.Gly1068Asp
ENST00000683645.1:n.3847G>A
ENST00000683796.1:c.*3168G>A	ENSP00000508221.1:n.*3168G>A
ENST00000683802.1:n.6221G>A
ENST00000683833.1:c.3287G>A	ENSP00000506852.1:p.Gly1096Asp
ENST00000683994.1:c.3296G>A	ENSP00000507181.1:p.Gly1099Asp
ENST00000684290.1:c.*832G>A	ENSP00000507243.1:n.*832G>A
ENST00000684306.1:c.*3209G>A	ENSP00000508384.1:n.*3209G>A
ENST00000684341.1:n.3316G>A
ENST00000684383.1:c.*2934G>A	ENSP00000506863.1:n.*2934G>A
ENST00000684418.1:n.4477G>A
ENST00000684454.1:n.2646G>A
ENST00000684619.1:c.*3168G>A	ENSP00000508088.1:n.*3168G>A
ENST00000684743.1:n.4327G>A
ENST00000260665.12:c.3296G>A MANE Select	ENSP00000260665.7:p.Gly1099Asp
ENST00000260665.11:c.3296G>A	ENSP00000260665.7:p.Gly1099Asp
NM_133259.3:c.3296G>A	NP_573566.2:p.Gly1099Asp
XM_006711915.2:c.3218G>A	XP_006711978.1:p.Gly1073Asp
XM_011532473.1:c.3296G>A	XP_011530775.1:p.Gly1099Asp
XM_011532474.1:c.3296G>A	XP_011530776.1:p.Gly1099Asp
XM_017003117.1:c.3218G>A	XP_016858606.1:p.Gly1073Asp
XR_002958896.1:n.3338G>A
NM_133259.4:c.3296G>A MANE Select	NP_573566.2:p.Gly1099Asp