Canonical Allele Identifier: CA1637949

Gene: LRPPRC

Linked Data

• dbSNP Id: rs747533693
• ExAC: 2:44126408 G / A
• gnomAD v2: 2-44126408-G-A
• gnomAD v4: 2-43899269-G-A
• MyVariant Identifiers: chr2:g.44126408G>A (hg19) ; chr2:g.43899269G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.206C>T
ENST00000472420.6:n.854C>T
ENST00000483489.2:n.206C>T
ENST00000681993.1:n.1327C>T
ENST00000682303.1:c.*3561C>T	ENSP00000508325.1:n.*3561C>T
ENST00000682308.1:c.3775C>T	ENSP00000507056.1:p.Leu1259Phe
ENST00000682434.1:n.1326C>T
ENST00000682480.1:c.3793C>T	ENSP00000508344.1:p.Leu1265Phe
ENST00000682546.1:c.3772C>T	ENSP00000508188.1:p.Leu1258Phe
ENST00000682585.1:c.3775C>T	ENSP00000506885.1:p.Leu1259Phe
ENST00000682595.1:n.4359C>T
ENST00000682607.1:c.2193C>T
ENST00000682612.1:c.627C>T
ENST00000682779.1:c.3766C>T	ENSP00000507947.1:p.Leu1256Phe
ENST00000682845.1:n.2877C>T
ENST00000682885.1:c.3730C>T	ENSP00000508036.1:p.Leu1244Phe
ENST00000682933.1:n.3849C>T
ENST00000683002.1:c.627C>T
ENST00000683072.1:n.4359C>T
ENST00000683080.1:n.1394C>T
ENST00000683125.1:c.3883C>T	ENSP00000507939.1:p.Leu1295Phe
ENST00000683213.1:c.3778C>T	ENSP00000507751.1:p.Leu1260Phe
ENST00000683220.1:c.3805C>T	ENSP00000507151.1:p.Leu1269Phe
ENST00000683329.1:n.4578C>T
ENST00000683346.1:c.*3650C>T	ENSP00000507458.1:n.*3650C>T
ENST00000683409.1:n.2382C>T
ENST00000683459.1:n.4362C>T
ENST00000683528.1:c.703C>T
ENST00000683590.1:c.3523C>T	ENSP00000506820.1:p.Leu1175Phe
ENST00000683623.1:c.3682C>T	ENSP00000507702.1:p.Leu1228Phe
ENST00000683645.1:n.4326C>T
ENST00000683796.1:c.*3647C>T	ENSP00000508221.1:n.*3647C>T
ENST00000683802.1:n.6700C>T
ENST00000683833.1:c.3766C>T	ENSP00000506852.1:p.Leu1256Phe
ENST00000683994.1:c.3775C>T	ENSP00000507181.1:p.Leu1259Phe
ENST00000684290.1:c.*1311C>T	ENSP00000507243.1:n.*1311C>T
ENST00000684306.1:c.*3688C>T	ENSP00000508384.1:n.*3688C>T
ENST00000684341.1:n.3795C>T
ENST00000684383.1:c.*3413C>T	ENSP00000506863.1:n.*3413C>T
ENST00000684418.1:n.4956C>T
ENST00000684433.1:n.159C>T
ENST00000684454.1:n.3125C>T
ENST00000684619.1:c.*3647C>T	ENSP00000508088.1:n.*3647C>T
ENST00000684743.1:n.6520C>T
ENST00000260665.12:c.3775C>T MANE Select	ENSP00000260665.7:p.Leu1259Phe
ENST00000260665.11:c.3775C>T	ENSP00000260665.7:p.Leu1259Phe
ENST00000419884.5:c.16C>T	ENSP00000414207.1:p.Leu6Phe
ENST00000463456.5:n.2818C>T
ENST00000472420.5:n.172C>T
ENST00000483489.1:n.249C>T
NM_133259.3:c.3775C>T	NP_573566.2:p.Leu1259Phe
XM_006711915.2:c.3697C>T	XP_006711978.1:p.Leu1233Phe
XM_011532473.1:c.3775C>T	XP_011530775.1:p.Leu1259Phe
XM_011532474.1:c.3775C>T	XP_011530776.1:p.Leu1259Phe
XM_017003117.1:c.3697C>T	XP_016858606.1:p.Leu1233Phe
XR_002958896.1:n.3817C>T
NM_133259.4:c.3775C>T MANE Select	NP_573566.2:p.Leu1259Phe