Canonical Allele Identifier: CA346676540

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126412A>T (hg19) ; chr2:g.43899273A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899273A>T , CM000664.2:g.43899273A>T	GRCh38
NC_000002.11:g.44126412A>T , CM000664.1:g.44126412A>T	GRCh37
NC_000002.10:g.43979916A>T	NCBI36
NG_008247.1:g.101733T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.202T>A
ENST00000472420.6:n.850T>A
ENST00000483489.2:n.202T>A
ENST00000681993.1:n.1323T>A
ENST00000682303.1:c.*3557T>A	ENSP00000508325.1:n.*3557T>A
ENST00000682308.1:c.3771T>A	ENSP00000507056.1:p.Phe1257Leu
ENST00000682434.1:n.1322T>A
ENST00000682480.1:c.3789T>A	ENSP00000508344.1:p.Phe1263Leu
ENST00000682546.1:c.3768T>A	ENSP00000508188.1:p.Phe1256Leu
ENST00000682585.1:c.3771T>A	ENSP00000506885.1:p.Phe1257Leu
ENST00000682595.1:n.4355T>A
ENST00000682607.1:c.2189T>A
ENST00000682612.1:c.623T>A
ENST00000682779.1:c.3762T>A	ENSP00000507947.1:p.Phe1254Leu
ENST00000682845.1:n.2873T>A
ENST00000682885.1:c.3726T>A	ENSP00000508036.1:p.Phe1242Leu
ENST00000682933.1:n.3845T>A
ENST00000683002.1:c.623T>A
ENST00000683072.1:n.4355T>A
ENST00000683080.1:n.1390T>A
ENST00000683125.1:c.3879T>A	ENSP00000507939.1:p.Phe1293Leu
ENST00000683213.1:c.3774T>A	ENSP00000507751.1:p.Phe1258Leu
ENST00000683220.1:c.3801T>A	ENSP00000507151.1:p.Phe1267Leu
ENST00000683329.1:n.4574T>A
ENST00000683346.1:c.*3646T>A	ENSP00000507458.1:n.*3646T>A
ENST00000683409.1:n.2378T>A
ENST00000683459.1:n.4358T>A
ENST00000683528.1:c.699T>A
ENST00000683590.1:c.3519T>A	ENSP00000506820.1:p.Phe1173Leu
ENST00000683623.1:c.3678T>A	ENSP00000507702.1:p.Phe1226Leu
ENST00000683645.1:n.4322T>A
ENST00000683796.1:c.*3643T>A	ENSP00000508221.1:n.*3643T>A
ENST00000683802.1:n.6696T>A
ENST00000683833.1:c.3762T>A	ENSP00000506852.1:p.Phe1254Leu
ENST00000683994.1:c.3771T>A	ENSP00000507181.1:p.Phe1257Leu
ENST00000684290.1:c.*1307T>A	ENSP00000507243.1:n.*1307T>A
ENST00000684306.1:c.*3684T>A	ENSP00000508384.1:n.*3684T>A
ENST00000684341.1:n.3791T>A
ENST00000684383.1:c.*3409T>A	ENSP00000506863.1:n.*3409T>A
ENST00000684418.1:n.4952T>A
ENST00000684433.1:n.155T>A
ENST00000684454.1:n.3121T>A
ENST00000684619.1:c.*3643T>A	ENSP00000508088.1:n.*3643T>A
ENST00000684743.1:n.6516T>A
ENST00000260665.12:c.3771T>A MANE Select	ENSP00000260665.7:p.Phe1257Leu
ENST00000260665.11:c.3771T>A	ENSP00000260665.7:p.Phe1257Leu
ENST00000419884.5:c.12T>A	ENSP00000414207.1:p.Phe4Leu
ENST00000463456.5:n.2814T>A
ENST00000472420.5:n.168T>A
ENST00000483489.1:n.245T>A
NM_133259.3:c.3771T>A	NP_573566.2:p.Phe1257Leu
XM_006711915.2:c.3693T>A	XP_006711978.1:p.Phe1231Leu
XM_011532473.1:c.3771T>A	XP_011530775.1:p.Phe1257Leu
XM_011532474.1:c.3771T>A	XP_011530776.1:p.Phe1257Leu
XM_017003117.1:c.3693T>A	XP_016858606.1:p.Phe1231Leu
XR_002958896.1:n.3813T>A
NM_133259.4:c.3771T>A MANE Select	NP_573566.2:p.Phe1257Leu