Canonical Allele Identifier: CA346668651

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145519T>A (hg19) ; chr2:g.43918380T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918380T>A , CM000664.2:g.43918380T>A	GRCh38
NC_000002.11:g.44145519T>A , CM000664.1:g.44145519T>A	GRCh37
NC_000002.10:g.43999023T>A	NCBI36
NG_008247.1:g.82626A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.467A>T
ENST00000682295.1:c.179A>T	ENSP00000507499.1:p.Gln60Leu
ENST00000682303.1:c.*2701A>T	ENSP00000508325.1:n.*2701A>T
ENST00000682308.1:c.2915A>T	ENSP00000507056.1:p.Gln972Leu
ENST00000682480.1:c.2915A>T	ENSP00000508344.1:p.Gln972Leu
ENST00000682546.1:c.2912A>T	ENSP00000508188.1:p.Gln971Leu
ENST00000682585.1:c.2915A>T	ENSP00000506885.1:p.Gln972Leu
ENST00000682595.1:n.3499A>T
ENST00000682607.1:c.1333A>T
ENST00000682779.1:c.2906A>T	ENSP00000507947.1:p.Gln969Leu
ENST00000682845.1:n.2017A>T
ENST00000682885.1:c.2870A>T	ENSP00000508036.1:p.Gln957Leu
ENST00000682933.1:n.2989A>T
ENST00000683072.1:n.3499A>T
ENST00000683080.1:n.534A>T
ENST00000683125.1:c.3023A>T	ENSP00000507939.1:p.Gln1008Leu
ENST00000683213.1:c.2918A>T	ENSP00000507751.1:p.Gln973Leu
ENST00000683220.1:c.2945A>T	ENSP00000507151.1:p.Gln982Leu
ENST00000683236.1:c.245A>T	ENSP00000506891.1:n.245A>T
ENST00000683329.1:n.3718A>T
ENST00000683346.1:c.*2790A>T	ENSP00000507458.1:n.*2790A>T
ENST00000683409.1:n.1522A>T
ENST00000683459.1:n.3502A>T
ENST00000683590.1:c.2897-5822A>T	ENSP00000506820.1:n.2897-5822A>T
ENST00000683623.1:c.2822A>T	ENSP00000507702.1:p.Gln941Leu
ENST00000683645.1:n.3466A>T
ENST00000683796.1:c.*2787A>T	ENSP00000508221.1:n.*2787A>T
ENST00000683802.1:n.5840A>T
ENST00000683833.1:c.2906A>T	ENSP00000506852.1:p.Gln969Leu
ENST00000683994.1:c.2915A>T	ENSP00000507181.1:p.Gln972Leu
ENST00000684290.1:c.*451A>T	ENSP00000507243.1:n.*451A>T
ENST00000684306.1:c.*2828A>T	ENSP00000508384.1:n.*2828A>T
ENST00000684341.1:n.2935A>T
ENST00000684383.1:c.*2553A>T	ENSP00000506863.1:n.*2553A>T
ENST00000684619.1:c.*2787A>T	ENSP00000508088.1:n.*2787A>T
ENST00000684705.1:n.36A>T
ENST00000684743.1:n.3946A>T
ENST00000260665.12:c.2915A>T MANE Select	ENSP00000260665.7:p.Gln972Leu
ENST00000260665.11:c.2915A>T	ENSP00000260665.7:p.Gln972Leu
NM_133259.3:c.2915A>T	NP_573566.2:p.Gln972Leu
XM_006711915.2:c.2837A>T	XP_006711978.1:p.Gln946Leu
XM_006711916.2:c.2915A>T	XP_006711979.1:p.Gln972Leu
XM_011532473.1:c.2915A>T	XP_011530775.1:p.Gln972Leu
XM_011532474.1:c.2915A>T	XP_011530776.1:p.Gln972Leu
XM_006711916.3:c.2915A>T	XP_006711979.1:p.Gln972Leu
XM_017003117.1:c.2837A>T	XP_016858606.1:p.Gln946Leu
XR_002958896.1:n.2957A>T
NM_133259.4:c.2915A>T MANE Select	NP_573566.2:p.Gln972Leu