Canonical Allele Identifier: CA1637940

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1305306
• ClinVar RCV Id: RCV001768513
• dbSNP Id: rs370011265
• ExAC: 2:44126368 G / C
• gnomAD v2: 2-44126368-G-C
• gnomAD v3: 2-43899229-G-C
• gnomAD v4: 2-43899229-G-C
• MyVariant Identifiers: chr2:g.44126368G>C (hg19) ; chr2:g.43899229G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899229G>C , CM000664.2:g.43899229G>C	GRCh38
NC_000002.11:g.44126368G>C , CM000664.1:g.44126368G>C	GRCh37
NC_000002.10:g.43979872G>C	NCBI36
NG_008247.1:g.101777C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.246C>G
ENST00000472420.6:n.894C>G
ENST00000483489.2:n.246C>G
ENST00000681993.1:n.1367C>G
ENST00000682303.1:c.*3601C>G	ENSP00000508325.1:n.*3601C>G
ENST00000682308.1:c.3815C>G	ENSP00000507056.1:p.Ala1272Gly
ENST00000682434.1:n.1366C>G
ENST00000682480.1:c.3833C>G	ENSP00000508344.1:p.Ala1278Gly
ENST00000682546.1:c.3812C>G	ENSP00000508188.1:p.Ala1271Gly
ENST00000682585.1:c.3815C>G	ENSP00000506885.1:p.Ala1272Gly
ENST00000682595.1:n.4399C>G
ENST00000682607.1:c.2233C>G
ENST00000682612.1:c.667C>G
ENST00000682779.1:c.3806C>G	ENSP00000507947.1:p.Ala1269Gly
ENST00000682885.1:c.3770C>G	ENSP00000508036.1:p.Ala1257Gly
ENST00000682933.1:n.3889C>G
ENST00000683002.1:c.667C>G
ENST00000683072.1:n.4399C>G
ENST00000683080.1:n.1434C>G
ENST00000683125.1:c.3923C>G	ENSP00000507939.1:p.Ala1308Gly
ENST00000683213.1:c.3818C>G	ENSP00000507751.1:p.Ala1273Gly
ENST00000683220.1:c.3845C>G	ENSP00000507151.1:p.Ala1282Gly
ENST00000683329.1:n.4618C>G
ENST00000683346.1:c.*3690C>G	ENSP00000507458.1:n.*3690C>G
ENST00000683409.1:n.2422C>G
ENST00000683459.1:n.4402C>G
ENST00000683528.1:c.743C>G
ENST00000683590.1:c.3563C>G	ENSP00000506820.1:p.Ala1188Gly
ENST00000683623.1:c.3722C>G	ENSP00000507702.1:p.Ala1241Gly
ENST00000683645.1:n.4366C>G
ENST00000683796.1:c.*3687C>G	ENSP00000508221.1:n.*3687C>G
ENST00000683833.1:c.3806C>G	ENSP00000506852.1:p.Ala1269Gly
ENST00000683994.1:c.3815C>G	ENSP00000507181.1:p.Ala1272Gly
ENST00000684290.1:c.*1351C>G	ENSP00000507243.1:n.*1351C>G
ENST00000684306.1:c.*3728C>G	ENSP00000508384.1:n.*3728C>G
ENST00000684341.1:n.3835C>G
ENST00000684383.1:c.*3453C>G	ENSP00000506863.1:n.*3453C>G
ENST00000684418.1:n.4996C>G
ENST00000684433.1:n.199C>G
ENST00000684454.1:n.3165C>G
ENST00000684619.1:c.*3687C>G	ENSP00000508088.1:n.*3687C>G
ENST00000684743.1:n.6560C>G
ENST00000260665.12:c.3815C>G MANE Select	ENSP00000260665.7:p.Ala1272Gly
ENST00000260665.11:c.3815C>G	ENSP00000260665.7:p.Ala1272Gly
ENST00000419884.5:c.56C>G	ENSP00000414207.1:p.Ala19Gly
ENST00000463456.5:n.2858C>G
ENST00000472420.5:n.212C>G
ENST00000483489.1:n.289C>G
NM_133259.3:c.3815C>G	NP_573566.2:p.Ala1272Gly
XM_006711915.2:c.3737C>G	XP_006711978.1:p.Ala1246Gly
XM_011532473.1:c.3815C>G	XP_011530775.1:p.Ala1272Gly
XM_011532474.1:c.3815C>G	XP_011530776.1:p.Ala1272Gly
XM_017003117.1:c.3737C>G	XP_016858606.1:p.Ala1246Gly
XR_002958896.1:n.3857C>G
NM_133259.4:c.3815C>G MANE Select	NP_573566.2:p.Ala1272Gly