Canonical Allele Identifier: CA346665104

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132908T>A (hg19) ; chr2:g.43905769T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905769T>A , CM000664.2:g.43905769T>A	GRCh38
NC_000002.11:g.44132908T>A , CM000664.1:g.44132908T>A	GRCh37
NC_000002.10:g.43986412T>A	NCBI36
NG_008247.1:g.95237A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.366A>T
ENST00000681993.1:n.839A>T
ENST00000682295.1:c.442A>T	ENSP00000507499.1:n.442A>T
ENST00000682303.1:c.*3073A>T	ENSP00000508325.1:n.*3073A>T
ENST00000682308.1:c.3287A>T	ENSP00000507056.1:p.His1096Leu
ENST00000682480.1:c.3305A>T	ENSP00000508344.1:p.His1102Leu
ENST00000682546.1:c.3284A>T	ENSP00000508188.1:p.His1095Leu
ENST00000682585.1:c.3287A>T	ENSP00000506885.1:p.His1096Leu
ENST00000682595.1:n.3871A>T
ENST00000682607.1:c.1705A>T
ENST00000682612.1:c.139A>T
ENST00000682779.1:c.3278A>T	ENSP00000507947.1:p.His1093Leu
ENST00000682845.1:n.2389A>T
ENST00000682885.1:c.3242A>T	ENSP00000508036.1:p.His1081Leu
ENST00000682933.1:n.3361A>T
ENST00000683002.1:c.139A>T
ENST00000683072.1:n.3871A>T
ENST00000683080.1:n.906A>T
ENST00000683125.1:c.3395A>T	ENSP00000507939.1:p.His1132Leu
ENST00000683213.1:c.3290A>T	ENSP00000507751.1:p.His1097Leu
ENST00000683220.1:c.3317A>T	ENSP00000507151.1:p.His1106Leu
ENST00000683329.1:n.4090A>T
ENST00000683346.1:c.*3162A>T	ENSP00000507458.1:n.*3162A>T
ENST00000683409.1:n.1894A>T
ENST00000683459.1:n.3874A>T
ENST00000683528.1:c.139A>T
ENST00000683590.1:c.3035A>T	ENSP00000506820.1:p.His1012Leu
ENST00000683623.1:c.3194A>T	ENSP00000507702.1:p.His1065Leu
ENST00000683645.1:n.3838A>T
ENST00000683796.1:c.*3159A>T	ENSP00000508221.1:n.*3159A>T
ENST00000683802.1:n.6212A>T
ENST00000683833.1:c.3278A>T	ENSP00000506852.1:p.His1093Leu
ENST00000683994.1:c.3287A>T	ENSP00000507181.1:p.His1096Leu
ENST00000684290.1:c.*823A>T	ENSP00000507243.1:n.*823A>T
ENST00000684306.1:c.*3200A>T	ENSP00000508384.1:n.*3200A>T
ENST00000684341.1:n.3307A>T
ENST00000684383.1:c.*2925A>T	ENSP00000506863.1:n.*2925A>T
ENST00000684418.1:n.4468A>T
ENST00000684454.1:n.2637A>T
ENST00000684619.1:c.*3159A>T	ENSP00000508088.1:n.*3159A>T
ENST00000684743.1:n.4318A>T
ENST00000260665.12:c.3287A>T MANE Select	ENSP00000260665.7:p.His1096Leu
ENST00000260665.11:c.3287A>T	ENSP00000260665.7:p.His1096Leu
NM_133259.3:c.3287A>T	NP_573566.2:p.His1096Leu
XM_006711915.2:c.3209A>T	XP_006711978.1:p.His1070Leu
XM_011532473.1:c.3287A>T	XP_011530775.1:p.His1096Leu
XM_011532474.1:c.3287A>T	XP_011530776.1:p.His1096Leu
XM_017003117.1:c.3209A>T	XP_016858606.1:p.His1070Leu
XR_002958896.1:n.3329A>T
NM_133259.4:c.3287A>T MANE Select	NP_573566.2:p.His1096Leu