Canonical Allele Identifier: CA346664988

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132867G>A (hg19) ; chr2:g.43905728G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905728G>A , CM000664.2:g.43905728G>A	GRCh38
NC_000002.11:g.44132867G>A , CM000664.1:g.44132867G>A	GRCh37
NC_000002.10:g.43986371G>A	NCBI36
NG_008247.1:g.95278C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.407C>T
ENST00000681993.1:n.880C>T
ENST00000682295.1:c.483C>T	ENSP00000507499.1:n.483C>T
ENST00000682303.1:c.*3114C>T	ENSP00000508325.1:n.*3114C>T
ENST00000682308.1:c.3328C>T	ENSP00000507056.1:p.Leu1110Phe
ENST00000682480.1:c.3346C>T	ENSP00000508344.1:p.Leu1116Phe
ENST00000682546.1:c.3325C>T	ENSP00000508188.1:p.Leu1109Phe
ENST00000682585.1:c.3328C>T	ENSP00000506885.1:p.Leu1110Phe
ENST00000682595.1:n.3912C>T
ENST00000682607.1:c.1746C>T
ENST00000682612.1:c.180C>T
ENST00000682779.1:c.3319C>T	ENSP00000507947.1:p.Leu1107Phe
ENST00000682845.1:n.2430C>T
ENST00000682885.1:c.3283C>T	ENSP00000508036.1:p.Leu1095Phe
ENST00000682933.1:n.3402C>T
ENST00000683002.1:c.180C>T
ENST00000683072.1:n.3912C>T
ENST00000683080.1:n.947C>T
ENST00000683125.1:c.3436C>T	ENSP00000507939.1:p.Leu1146Phe
ENST00000683213.1:c.3331C>T	ENSP00000507751.1:p.Leu1111Phe
ENST00000683220.1:c.3358C>T	ENSP00000507151.1:p.Leu1120Phe
ENST00000683329.1:n.4131C>T
ENST00000683346.1:c.*3203C>T	ENSP00000507458.1:n.*3203C>T
ENST00000683409.1:n.1935C>T
ENST00000683459.1:n.3915C>T
ENST00000683528.1:c.180C>T
ENST00000683590.1:c.3076C>T	ENSP00000506820.1:p.Leu1026Phe
ENST00000683623.1:c.3235C>T	ENSP00000507702.1:p.Leu1079Phe
ENST00000683645.1:n.3879C>T
ENST00000683796.1:c.*3200C>T	ENSP00000508221.1:n.*3200C>T
ENST00000683802.1:n.6253C>T
ENST00000683833.1:c.3319C>T	ENSP00000506852.1:p.Leu1107Phe
ENST00000683994.1:c.3328C>T	ENSP00000507181.1:p.Leu1110Phe
ENST00000684290.1:c.*864C>T	ENSP00000507243.1:n.*864C>T
ENST00000684306.1:c.*3241C>T	ENSP00000508384.1:n.*3241C>T
ENST00000684341.1:n.3348C>T
ENST00000684383.1:c.*2966C>T	ENSP00000506863.1:n.*2966C>T
ENST00000684418.1:n.4509C>T
ENST00000684454.1:n.2678C>T
ENST00000684619.1:c.*3200C>T	ENSP00000508088.1:n.*3200C>T
ENST00000684743.1:n.4359C>T
ENST00000260665.12:c.3328C>T MANE Select	ENSP00000260665.7:p.Leu1110Phe
ENST00000260665.11:c.3328C>T	ENSP00000260665.7:p.Leu1110Phe
NM_133259.3:c.3328C>T	NP_573566.2:p.Leu1110Phe
XM_006711915.2:c.3250C>T	XP_006711978.1:p.Leu1084Phe
XM_011532473.1:c.3328C>T	XP_011530775.1:p.Leu1110Phe
XM_011532474.1:c.3328C>T	XP_011530776.1:p.Leu1110Phe
XM_017003117.1:c.3250C>T	XP_016858606.1:p.Leu1084Phe
XR_002958896.1:n.3370C>T
NM_133259.4:c.3328C>T MANE Select	NP_573566.2:p.Leu1110Phe