Canonical Allele Identifier: CA346676457

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1322839309
• gnomAD v2: 2-44126393-C-A
• gnomAD v4: 2-43899254-C-A
• MyVariant Identifiers: chr2:g.44126393C>A (hg19) ; chr2:g.43899254C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899254C>A , CM000664.2:g.43899254C>A	GRCh38
NC_000002.11:g.44126393C>A , CM000664.1:g.44126393C>A	GRCh37
NC_000002.10:g.43979897C>A	NCBI36
NG_008247.1:g.101752G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.221G>T
ENST00000472420.6:n.869G>T
ENST00000483489.2:n.221G>T
ENST00000681993.1:n.1342G>T
ENST00000682303.1:c.*3576G>T	ENSP00000508325.1:n.*3576G>T
ENST00000682308.1:c.3790G>T	ENSP00000507056.1:p.Ala1264Ser
ENST00000682434.1:n.1341G>T
ENST00000682480.1:c.3808G>T	ENSP00000508344.1:p.Ala1270Ser
ENST00000682546.1:c.3787G>T	ENSP00000508188.1:p.Ala1263Ser
ENST00000682585.1:c.3790G>T	ENSP00000506885.1:p.Ala1264Ser
ENST00000682595.1:n.4374G>T
ENST00000682607.1:c.2208G>T
ENST00000682612.1:c.642G>T
ENST00000682779.1:c.3781G>T	ENSP00000507947.1:p.Ala1261Ser
ENST00000682845.1:n.2892G>T
ENST00000682885.1:c.3745G>T	ENSP00000508036.1:p.Ala1249Ser
ENST00000682933.1:n.3864G>T
ENST00000683002.1:c.642G>T
ENST00000683072.1:n.4374G>T
ENST00000683080.1:n.1409G>T
ENST00000683125.1:c.3898G>T	ENSP00000507939.1:p.Ala1300Ser
ENST00000683213.1:c.3793G>T	ENSP00000507751.1:p.Ala1265Ser
ENST00000683220.1:c.3820G>T	ENSP00000507151.1:p.Ala1274Ser
ENST00000683329.1:n.4593G>T
ENST00000683346.1:c.*3665G>T	ENSP00000507458.1:n.*3665G>T
ENST00000683409.1:n.2397G>T
ENST00000683459.1:n.4377G>T
ENST00000683528.1:c.718G>T
ENST00000683590.1:c.3538G>T	ENSP00000506820.1:p.Ala1180Ser
ENST00000683623.1:c.3697G>T	ENSP00000507702.1:p.Ala1233Ser
ENST00000683645.1:n.4341G>T
ENST00000683796.1:c.*3662G>T	ENSP00000508221.1:n.*3662G>T
ENST00000683802.1:n.6715G>T
ENST00000683833.1:c.3781G>T	ENSP00000506852.1:p.Ala1261Ser
ENST00000683994.1:c.3790G>T	ENSP00000507181.1:p.Ala1264Ser
ENST00000684290.1:c.*1326G>T	ENSP00000507243.1:n.*1326G>T
ENST00000684306.1:c.*3703G>T	ENSP00000508384.1:n.*3703G>T
ENST00000684341.1:n.3810G>T
ENST00000684383.1:c.*3428G>T	ENSP00000506863.1:n.*3428G>T
ENST00000684418.1:n.4971G>T
ENST00000684433.1:n.174G>T
ENST00000684454.1:n.3140G>T
ENST00000684619.1:c.*3662G>T	ENSP00000508088.1:n.*3662G>T
ENST00000684743.1:n.6535G>T
ENST00000260665.12:c.3790G>T MANE Select	ENSP00000260665.7:p.Ala1264Ser
ENST00000260665.11:c.3790G>T	ENSP00000260665.7:p.Ala1264Ser
ENST00000419884.5:c.31G>T	ENSP00000414207.1:p.Ala11Ser
ENST00000463456.5:n.2833G>T
ENST00000472420.5:n.187G>T
ENST00000483489.1:n.264G>T
NM_133259.3:c.3790G>T	NP_573566.2:p.Ala1264Ser
XM_006711915.2:c.3712G>T	XP_006711978.1:p.Ala1238Ser
XM_011532473.1:c.3790G>T	XP_011530775.1:p.Ala1264Ser
XM_011532474.1:c.3790G>T	XP_011530776.1:p.Ala1264Ser
XM_017003117.1:c.3712G>T	XP_016858606.1:p.Ala1238Ser
XR_002958896.1:n.3832G>T
NM_133259.4:c.3790G>T MANE Select	NP_573566.2:p.Ala1264Ser