Canonical Allele Identifier: CA346676654

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126441A>C (hg19) ; chr2:g.43899302A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899302A>C , CM000664.2:g.43899302A>C	GRCh38
NC_000002.11:g.44126441A>C , CM000664.1:g.44126441A>C	GRCh37
NC_000002.10:g.43979945A>C	NCBI36
NG_008247.1:g.101704T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.173T>G
ENST00000472420.6:n.821T>G
ENST00000483489.2:n.173T>G
ENST00000681993.1:n.1294T>G
ENST00000682303.1:c.*3528T>G	ENSP00000508325.1:n.*3528T>G
ENST00000682308.1:c.3742T>G	ENSP00000507056.1:p.Phe1248Val
ENST00000682434.1:n.1293T>G
ENST00000682480.1:c.3760T>G	ENSP00000508344.1:p.Phe1254Val
ENST00000682546.1:c.3739T>G	ENSP00000508188.1:p.Phe1247Val
ENST00000682585.1:c.3742T>G	ENSP00000506885.1:p.Phe1248Val
ENST00000682595.1:n.4326T>G
ENST00000682607.1:c.2160T>G
ENST00000682612.1:c.594T>G
ENST00000682779.1:c.3733T>G	ENSP00000507947.1:p.Phe1245Val
ENST00000682845.1:n.2844T>G
ENST00000682885.1:c.3697T>G	ENSP00000508036.1:p.Phe1233Val
ENST00000682933.1:n.3816T>G
ENST00000683002.1:c.594T>G
ENST00000683072.1:n.4326T>G
ENST00000683080.1:n.1361T>G
ENST00000683125.1:c.3850T>G	ENSP00000507939.1:p.Phe1284Val
ENST00000683213.1:c.3745T>G	ENSP00000507751.1:p.Phe1249Val
ENST00000683220.1:c.3772T>G	ENSP00000507151.1:p.Phe1258Val
ENST00000683329.1:n.4545T>G
ENST00000683346.1:c.*3617T>G	ENSP00000507458.1:n.*3617T>G
ENST00000683409.1:n.2349T>G
ENST00000683459.1:n.4329T>G
ENST00000683528.1:c.670T>G
ENST00000683590.1:c.3490T>G	ENSP00000506820.1:p.Phe1164Val
ENST00000683623.1:c.3649T>G	ENSP00000507702.1:p.Phe1217Val
ENST00000683645.1:n.4293T>G
ENST00000683796.1:c.*3614T>G	ENSP00000508221.1:n.*3614T>G
ENST00000683802.1:n.6667T>G
ENST00000683833.1:c.3733T>G	ENSP00000506852.1:p.Phe1245Val
ENST00000683994.1:c.3742T>G	ENSP00000507181.1:p.Phe1248Val
ENST00000684290.1:c.*1278T>G	ENSP00000507243.1:n.*1278T>G
ENST00000684306.1:c.*3655T>G	ENSP00000508384.1:n.*3655T>G
ENST00000684341.1:n.3762T>G
ENST00000684383.1:c.*3380T>G	ENSP00000506863.1:n.*3380T>G
ENST00000684418.1:n.4923T>G
ENST00000684433.1:n.126T>G
ENST00000684454.1:n.3092T>G
ENST00000684619.1:c.*3614T>G	ENSP00000508088.1:n.*3614T>G
ENST00000684743.1:n.6487T>G
ENST00000260665.12:c.3742T>G MANE Select	ENSP00000260665.7:p.Phe1248Val
ENST00000260665.11:c.3742T>G	ENSP00000260665.7:p.Phe1248Val
ENST00000463456.5:n.2785T>G
ENST00000472420.5:n.139T>G
ENST00000483489.1:n.216T>G
NM_133259.3:c.3742T>G	NP_573566.2:p.Phe1248Val
XM_006711915.2:c.3664T>G	XP_006711978.1:p.Phe1222Val
XM_011532473.1:c.3742T>G	XP_011530775.1:p.Phe1248Val
XM_011532474.1:c.3742T>G	XP_011530776.1:p.Phe1248Val
XM_017003117.1:c.3664T>G	XP_016858606.1:p.Phe1222Val
XR_002958896.1:n.3784T>G
NM_133259.4:c.3742T>G MANE Select	NP_573566.2:p.Phe1248Val