Canonical Allele Identifier: CA346676518

Gene: LRPPRC

Linked Data

• dbSNP Id: rs747533693
• gnomAD v3: 2-43899269-G-T
• gnomAD v4: 2-43899269-G-T
• MyVariant Identifiers: chr2:g.44126408G>T (hg19) ; chr2:g.43899269G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899269G>T , CM000664.2:g.43899269G>T	GRCh38
NC_000002.11:g.44126408G>T , CM000664.1:g.44126408G>T	GRCh37
NC_000002.10:g.43979912G>T	NCBI36
NG_008247.1:g.101737C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.206C>A
ENST00000472420.6:n.854C>A
ENST00000483489.2:n.206C>A
ENST00000681993.1:n.1327C>A
ENST00000682303.1:c.*3561C>A	ENSP00000508325.1:n.*3561C>A
ENST00000682308.1:c.3775C>A	ENSP00000507056.1:p.Leu1259Ile
ENST00000682434.1:n.1326C>A
ENST00000682480.1:c.3793C>A	ENSP00000508344.1:p.Leu1265Ile
ENST00000682546.1:c.3772C>A	ENSP00000508188.1:p.Leu1258Ile
ENST00000682585.1:c.3775C>A	ENSP00000506885.1:p.Leu1259Ile
ENST00000682595.1:n.4359C>A
ENST00000682607.1:c.2193C>A
ENST00000682612.1:c.627C>A
ENST00000682779.1:c.3766C>A	ENSP00000507947.1:p.Leu1256Ile
ENST00000682845.1:n.2877C>A
ENST00000682885.1:c.3730C>A	ENSP00000508036.1:p.Leu1244Ile
ENST00000682933.1:n.3849C>A
ENST00000683002.1:c.627C>A
ENST00000683072.1:n.4359C>A
ENST00000683080.1:n.1394C>A
ENST00000683125.1:c.3883C>A	ENSP00000507939.1:p.Leu1295Ile
ENST00000683213.1:c.3778C>A	ENSP00000507751.1:p.Leu1260Ile
ENST00000683220.1:c.3805C>A	ENSP00000507151.1:p.Leu1269Ile
ENST00000683329.1:n.4578C>A
ENST00000683346.1:c.*3650C>A	ENSP00000507458.1:n.*3650C>A
ENST00000683409.1:n.2382C>A
ENST00000683459.1:n.4362C>A
ENST00000683528.1:c.703C>A
ENST00000683590.1:c.3523C>A	ENSP00000506820.1:p.Leu1175Ile
ENST00000683623.1:c.3682C>A	ENSP00000507702.1:p.Leu1228Ile
ENST00000683645.1:n.4326C>A
ENST00000683796.1:c.*3647C>A	ENSP00000508221.1:n.*3647C>A
ENST00000683802.1:n.6700C>A
ENST00000683833.1:c.3766C>A	ENSP00000506852.1:p.Leu1256Ile
ENST00000683994.1:c.3775C>A	ENSP00000507181.1:p.Leu1259Ile
ENST00000684290.1:c.*1311C>A	ENSP00000507243.1:n.*1311C>A
ENST00000684306.1:c.*3688C>A	ENSP00000508384.1:n.*3688C>A
ENST00000684341.1:n.3795C>A
ENST00000684383.1:c.*3413C>A	ENSP00000506863.1:n.*3413C>A
ENST00000684418.1:n.4956C>A
ENST00000684433.1:n.159C>A
ENST00000684454.1:n.3125C>A
ENST00000684619.1:c.*3647C>A	ENSP00000508088.1:n.*3647C>A
ENST00000684743.1:n.6520C>A
ENST00000260665.12:c.3775C>A MANE Select	ENSP00000260665.7:p.Leu1259Ile
ENST00000260665.11:c.3775C>A	ENSP00000260665.7:p.Leu1259Ile
ENST00000419884.5:c.16C>A	ENSP00000414207.1:p.Leu6Ile
ENST00000463456.5:n.2818C>A
ENST00000472420.5:n.172C>A
ENST00000483489.1:n.249C>A
NM_133259.3:c.3775C>A	NP_573566.2:p.Leu1259Ile
XM_006711915.2:c.3697C>A	XP_006711978.1:p.Leu1233Ile
XM_011532473.1:c.3775C>A	XP_011530775.1:p.Leu1259Ile
XM_011532474.1:c.3775C>A	XP_011530776.1:p.Leu1259Ile
XM_017003117.1:c.3697C>A	XP_016858606.1:p.Leu1233Ile
XR_002958896.1:n.3817C>A
NM_133259.4:c.3775C>A MANE Select	NP_573566.2:p.Leu1259Ile