Canonical Allele Identifier: CA346676558

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126417C>A (hg19) ; chr2:g.43899278C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899278C>A , CM000664.2:g.43899278C>A	GRCh38
NC_000002.11:g.44126417C>A , CM000664.1:g.44126417C>A	GRCh37
NC_000002.10:g.43979921C>A	NCBI36
NG_008247.1:g.101728G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.197G>T
ENST00000472420.6:n.845G>T
ENST00000483489.2:n.197G>T
ENST00000681993.1:n.1318G>T
ENST00000682303.1:c.*3552G>T	ENSP00000508325.1:n.*3552G>T
ENST00000682308.1:c.3766G>T	ENSP00000507056.1:p.Asp1256Tyr
ENST00000682434.1:n.1317G>T
ENST00000682480.1:c.3784G>T	ENSP00000508344.1:p.Asp1262Tyr
ENST00000682546.1:c.3763G>T	ENSP00000508188.1:p.Asp1255Tyr
ENST00000682585.1:c.3766G>T	ENSP00000506885.1:p.Asp1256Tyr
ENST00000682595.1:n.4350G>T
ENST00000682607.1:c.2184G>T
ENST00000682612.1:c.618G>T
ENST00000682779.1:c.3757G>T	ENSP00000507947.1:p.Asp1253Tyr
ENST00000682845.1:n.2868G>T
ENST00000682885.1:c.3721G>T	ENSP00000508036.1:p.Asp1241Tyr
ENST00000682933.1:n.3840G>T
ENST00000683002.1:c.618G>T
ENST00000683072.1:n.4350G>T
ENST00000683080.1:n.1385G>T
ENST00000683125.1:c.3874G>T	ENSP00000507939.1:p.Asp1292Tyr
ENST00000683213.1:c.3769G>T	ENSP00000507751.1:p.Asp1257Tyr
ENST00000683220.1:c.3796G>T	ENSP00000507151.1:p.Asp1266Tyr
ENST00000683329.1:n.4569G>T
ENST00000683346.1:c.*3641G>T	ENSP00000507458.1:n.*3641G>T
ENST00000683409.1:n.2373G>T
ENST00000683459.1:n.4353G>T
ENST00000683528.1:c.694G>T
ENST00000683590.1:c.3514G>T	ENSP00000506820.1:p.Asp1172Tyr
ENST00000683623.1:c.3673G>T	ENSP00000507702.1:p.Asp1225Tyr
ENST00000683645.1:n.4317G>T
ENST00000683796.1:c.*3638G>T	ENSP00000508221.1:n.*3638G>T
ENST00000683802.1:n.6691G>T
ENST00000683833.1:c.3757G>T	ENSP00000506852.1:p.Asp1253Tyr
ENST00000683994.1:c.3766G>T	ENSP00000507181.1:p.Asp1256Tyr
ENST00000684290.1:c.*1302G>T	ENSP00000507243.1:n.*1302G>T
ENST00000684306.1:c.*3679G>T	ENSP00000508384.1:n.*3679G>T
ENST00000684341.1:n.3786G>T
ENST00000684383.1:c.*3404G>T	ENSP00000506863.1:n.*3404G>T
ENST00000684418.1:n.4947G>T
ENST00000684433.1:n.150G>T
ENST00000684454.1:n.3116G>T
ENST00000684619.1:c.*3638G>T	ENSP00000508088.1:n.*3638G>T
ENST00000684743.1:n.6511G>T
ENST00000260665.12:c.3766G>T MANE Select	ENSP00000260665.7:p.Asp1256Tyr
ENST00000260665.11:c.3766G>T	ENSP00000260665.7:p.Asp1256Tyr
ENST00000419884.5:c.7G>T	ENSP00000414207.1:p.Asp3Tyr
ENST00000463456.5:n.2809G>T
ENST00000472420.5:n.163G>T
ENST00000483489.1:n.240G>T
NM_133259.3:c.3766G>T	NP_573566.2:p.Asp1256Tyr
XM_006711915.2:c.3688G>T	XP_006711978.1:p.Asp1230Tyr
XM_011532473.1:c.3766G>T	XP_011530775.1:p.Asp1256Tyr
XM_011532474.1:c.3766G>T	XP_011530776.1:p.Asp1256Tyr
XM_017003117.1:c.3688G>T	XP_016858606.1:p.Asp1230Tyr
XR_002958896.1:n.3808G>T
NM_133259.4:c.3766G>T MANE Select	NP_573566.2:p.Asp1256Tyr