Canonical Allele Identifier: CA346676534

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126411A>G (hg19) ; chr2:g.43899272A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899272A>G , CM000664.2:g.43899272A>G	GRCh38
NC_000002.11:g.44126411A>G , CM000664.1:g.44126411A>G	GRCh37
NC_000002.10:g.43979915A>G	NCBI36
NG_008247.1:g.101734T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.203T>C
ENST00000472420.6:n.851T>C
ENST00000483489.2:n.203T>C
ENST00000681993.1:n.1324T>C
ENST00000682303.1:c.*3558T>C	ENSP00000508325.1:n.*3558T>C
ENST00000682308.1:c.3772T>C	ENSP00000507056.1:p.Phe1258Leu
ENST00000682434.1:n.1323T>C
ENST00000682480.1:c.3790T>C	ENSP00000508344.1:p.Phe1264Leu
ENST00000682546.1:c.3769T>C	ENSP00000508188.1:p.Phe1257Leu
ENST00000682585.1:c.3772T>C	ENSP00000506885.1:p.Phe1258Leu
ENST00000682595.1:n.4356T>C
ENST00000682607.1:c.2190T>C
ENST00000682612.1:c.624T>C
ENST00000682779.1:c.3763T>C	ENSP00000507947.1:p.Phe1255Leu
ENST00000682845.1:n.2874T>C
ENST00000682885.1:c.3727T>C	ENSP00000508036.1:p.Phe1243Leu
ENST00000682933.1:n.3846T>C
ENST00000683002.1:c.624T>C
ENST00000683072.1:n.4356T>C
ENST00000683080.1:n.1391T>C
ENST00000683125.1:c.3880T>C	ENSP00000507939.1:p.Phe1294Leu
ENST00000683213.1:c.3775T>C	ENSP00000507751.1:p.Phe1259Leu
ENST00000683220.1:c.3802T>C	ENSP00000507151.1:p.Phe1268Leu
ENST00000683329.1:n.4575T>C
ENST00000683346.1:c.*3647T>C	ENSP00000507458.1:n.*3647T>C
ENST00000683409.1:n.2379T>C
ENST00000683459.1:n.4359T>C
ENST00000683528.1:c.700T>C
ENST00000683590.1:c.3520T>C	ENSP00000506820.1:p.Phe1174Leu
ENST00000683623.1:c.3679T>C	ENSP00000507702.1:p.Phe1227Leu
ENST00000683645.1:n.4323T>C
ENST00000683796.1:c.*3644T>C	ENSP00000508221.1:n.*3644T>C
ENST00000683802.1:n.6697T>C
ENST00000683833.1:c.3763T>C	ENSP00000506852.1:p.Phe1255Leu
ENST00000683994.1:c.3772T>C	ENSP00000507181.1:p.Phe1258Leu
ENST00000684290.1:c.*1308T>C	ENSP00000507243.1:n.*1308T>C
ENST00000684306.1:c.*3685T>C	ENSP00000508384.1:n.*3685T>C
ENST00000684341.1:n.3792T>C
ENST00000684383.1:c.*3410T>C	ENSP00000506863.1:n.*3410T>C
ENST00000684418.1:n.4953T>C
ENST00000684433.1:n.156T>C
ENST00000684454.1:n.3122T>C
ENST00000684619.1:c.*3644T>C	ENSP00000508088.1:n.*3644T>C
ENST00000684743.1:n.6517T>C
ENST00000260665.12:c.3772T>C MANE Select	ENSP00000260665.7:p.Phe1258Leu
ENST00000260665.11:c.3772T>C	ENSP00000260665.7:p.Phe1258Leu
ENST00000419884.5:c.13T>C	ENSP00000414207.1:p.Phe5Leu
ENST00000463456.5:n.2815T>C
ENST00000472420.5:n.169T>C
ENST00000483489.1:n.246T>C
NM_133259.3:c.3772T>C	NP_573566.2:p.Phe1258Leu
XM_006711915.2:c.3694T>C	XP_006711978.1:p.Phe1232Leu
XM_011532473.1:c.3772T>C	XP_011530775.1:p.Phe1258Leu
XM_011532474.1:c.3772T>C	XP_011530776.1:p.Phe1258Leu
XM_017003117.1:c.3694T>C	XP_016858606.1:p.Phe1232Leu
XR_002958896.1:n.3814T>C
NM_133259.4:c.3772T>C MANE Select	NP_573566.2:p.Phe1258Leu