Canonical Allele Identifier: CA346676695

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126450C>A (hg19) ; chr2:g.43899311C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899311C>A , CM000664.2:g.43899311C>A	GRCh38
NC_000002.11:g.44126450C>A , CM000664.1:g.44126450C>A	GRCh37
NC_000002.10:g.43979954C>A	NCBI36
NG_008247.1:g.101695G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.164G>T
ENST00000472420.6:n.812G>T
ENST00000483489.2:n.164G>T
ENST00000681993.1:n.1285G>T
ENST00000682303.1:c.*3519G>T	ENSP00000508325.1:n.*3519G>T
ENST00000682308.1:c.3733G>T	ENSP00000507056.1:p.Ala1245Ser
ENST00000682434.1:n.1284G>T
ENST00000682480.1:c.3751G>T	ENSP00000508344.1:p.Ala1251Ser
ENST00000682546.1:c.3730G>T	ENSP00000508188.1:p.Ala1244Ser
ENST00000682585.1:c.3733G>T	ENSP00000506885.1:p.Ala1245Ser
ENST00000682595.1:n.4317G>T
ENST00000682607.1:c.2151G>T
ENST00000682612.1:c.585G>T
ENST00000682779.1:c.3724G>T	ENSP00000507947.1:p.Ala1242Ser
ENST00000682845.1:n.2835G>T
ENST00000682885.1:c.3688G>T	ENSP00000508036.1:p.Ala1230Ser
ENST00000682933.1:n.3807G>T
ENST00000683002.1:c.585G>T
ENST00000683072.1:n.4317G>T
ENST00000683080.1:n.1352G>T
ENST00000683125.1:c.3841G>T	ENSP00000507939.1:p.Ala1281Ser
ENST00000683213.1:c.3736G>T	ENSP00000507751.1:p.Ala1246Ser
ENST00000683220.1:c.3763G>T	ENSP00000507151.1:p.Ala1255Ser
ENST00000683329.1:n.4536G>T
ENST00000683346.1:c.*3608G>T	ENSP00000507458.1:n.*3608G>T
ENST00000683409.1:n.2340G>T
ENST00000683459.1:n.4320G>T
ENST00000683528.1:c.661G>T
ENST00000683590.1:c.3481G>T	ENSP00000506820.1:p.Ala1161Ser
ENST00000683623.1:c.3640G>T	ENSP00000507702.1:p.Ala1214Ser
ENST00000683645.1:n.4284G>T
ENST00000683796.1:c.*3605G>T	ENSP00000508221.1:n.*3605G>T
ENST00000683802.1:n.6658G>T
ENST00000683833.1:c.3724G>T	ENSP00000506852.1:p.Ala1242Ser
ENST00000683994.1:c.3733G>T	ENSP00000507181.1:p.Ala1245Ser
ENST00000684290.1:c.*1269G>T	ENSP00000507243.1:n.*1269G>T
ENST00000684306.1:c.*3646G>T	ENSP00000508384.1:n.*3646G>T
ENST00000684341.1:n.3753G>T
ENST00000684383.1:c.*3371G>T	ENSP00000506863.1:n.*3371G>T
ENST00000684418.1:n.4914G>T
ENST00000684433.1:n.117G>T
ENST00000684454.1:n.3083G>T
ENST00000684619.1:c.*3605G>T	ENSP00000508088.1:n.*3605G>T
ENST00000684743.1:n.6478G>T
ENST00000260665.12:c.3733G>T MANE Select	ENSP00000260665.7:p.Ala1245Ser
ENST00000260665.11:c.3733G>T	ENSP00000260665.7:p.Ala1245Ser
ENST00000463456.5:n.2776G>T
ENST00000472420.5:n.130G>T
ENST00000483489.1:n.207G>T
NM_133259.3:c.3733G>T	NP_573566.2:p.Ala1245Ser
XM_006711915.2:c.3655G>T	XP_006711978.1:p.Ala1219Ser
XM_011532473.1:c.3733G>T	XP_011530775.1:p.Ala1245Ser
XM_011532474.1:c.3733G>T	XP_011530776.1:p.Ala1245Ser
XM_017003117.1:c.3655G>T	XP_016858606.1:p.Ala1219Ser
XR_002958896.1:n.3775G>T
NM_133259.4:c.3733G>T MANE Select	NP_573566.2:p.Ala1245Ser