Canonical Allele Identifier: CA346676592

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126427T>A (hg19) ; chr2:g.43899288T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899288T>A , CM000664.2:g.43899288T>A	GRCh38
NC_000002.11:g.44126427T>A , CM000664.1:g.44126427T>A	GRCh37
NC_000002.10:g.43979931T>A	NCBI36
NG_008247.1:g.101718A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.187A>T
ENST00000472420.6:n.835A>T
ENST00000483489.2:n.187A>T
ENST00000681993.1:n.1308A>T
ENST00000682303.1:c.*3542A>T	ENSP00000508325.1:n.*3542A>T
ENST00000682308.1:c.3756A>T	ENSP00000507056.1:p.Lys1252Asn
ENST00000682434.1:n.1307A>T
ENST00000682480.1:c.3774A>T	ENSP00000508344.1:p.Lys1258Asn
ENST00000682546.1:c.3753A>T	ENSP00000508188.1:p.Lys1251Asn
ENST00000682585.1:c.3756A>T	ENSP00000506885.1:p.Lys1252Asn
ENST00000682595.1:n.4340A>T
ENST00000682607.1:c.2174A>T
ENST00000682612.1:c.608A>T
ENST00000682779.1:c.3747A>T	ENSP00000507947.1:p.Lys1249Asn
ENST00000682845.1:n.2858A>T
ENST00000682885.1:c.3711A>T	ENSP00000508036.1:p.Lys1237Asn
ENST00000682933.1:n.3830A>T
ENST00000683002.1:c.608A>T
ENST00000683072.1:n.4340A>T
ENST00000683080.1:n.1375A>T
ENST00000683125.1:c.3864A>T	ENSP00000507939.1:p.Lys1288Asn
ENST00000683213.1:c.3759A>T	ENSP00000507751.1:p.Lys1253Asn
ENST00000683220.1:c.3786A>T	ENSP00000507151.1:p.Lys1262Asn
ENST00000683329.1:n.4559A>T
ENST00000683346.1:c.*3631A>T	ENSP00000507458.1:n.*3631A>T
ENST00000683409.1:n.2363A>T
ENST00000683459.1:n.4343A>T
ENST00000683528.1:c.684A>T
ENST00000683590.1:c.3504A>T	ENSP00000506820.1:p.Lys1168Asn
ENST00000683623.1:c.3663A>T	ENSP00000507702.1:p.Lys1221Asn
ENST00000683645.1:n.4307A>T
ENST00000683796.1:c.*3628A>T	ENSP00000508221.1:n.*3628A>T
ENST00000683802.1:n.6681A>T
ENST00000683833.1:c.3747A>T	ENSP00000506852.1:p.Lys1249Asn
ENST00000683994.1:c.3756A>T	ENSP00000507181.1:p.Lys1252Asn
ENST00000684290.1:c.*1292A>T	ENSP00000507243.1:n.*1292A>T
ENST00000684306.1:c.*3669A>T	ENSP00000508384.1:n.*3669A>T
ENST00000684341.1:n.3776A>T
ENST00000684383.1:c.*3394A>T	ENSP00000506863.1:n.*3394A>T
ENST00000684418.1:n.4937A>T
ENST00000684433.1:n.140A>T
ENST00000684454.1:n.3106A>T
ENST00000684619.1:c.*3628A>T	ENSP00000508088.1:n.*3628A>T
ENST00000684743.1:n.6501A>T
ENST00000260665.12:c.3756A>T MANE Select	ENSP00000260665.7:p.Lys1252Asn
ENST00000260665.11:c.3756A>T	ENSP00000260665.7:p.Lys1252Asn
ENST00000463456.5:n.2799A>T
ENST00000472420.5:n.153A>T
ENST00000483489.1:n.230A>T
NM_133259.3:c.3756A>T	NP_573566.2:p.Lys1252Asn
XM_006711915.2:c.3678A>T	XP_006711978.1:p.Lys1226Asn
XM_011532473.1:c.3756A>T	XP_011530775.1:p.Lys1252Asn
XM_011532474.1:c.3756A>T	XP_011530776.1:p.Lys1252Asn
XM_017003117.1:c.3678A>T	XP_016858606.1:p.Lys1226Asn
XR_002958896.1:n.3798A>T
NM_133259.4:c.3756A>T MANE Select	NP_573566.2:p.Lys1252Asn