Canonical Allele Identifier: CA346668240

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145244A>T (hg19) ; chr2:g.43918105A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918105A>T , CM000664.2:g.43918105A>T	GRCh38
NC_000002.11:g.44145244A>T , CM000664.1:g.44145244A>T	GRCh37
NC_000002.10:g.43998748A>T	NCBI36
NG_008247.1:g.82901T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.620T>A
ENST00000682295.1:c.303+151T>A	ENSP00000507499.1:n.303+151T>A
ENST00000682303.1:c.*2854T>A	ENSP00000508325.1:n.*2854T>A
ENST00000682308.1:c.3068T>A	ENSP00000507056.1:p.Leu1023Gln
ENST00000682480.1:c.3086T>A	ENSP00000508344.1:p.Leu1029Gln
ENST00000682546.1:c.3065T>A	ENSP00000508188.1:p.Leu1022Gln
ENST00000682585.1:c.3068T>A	ENSP00000506885.1:p.Leu1023Gln
ENST00000682595.1:n.3652T>A
ENST00000682607.1:c.1486T>A
ENST00000682779.1:c.3059T>A	ENSP00000507947.1:p.Leu1020Gln
ENST00000682845.1:n.2170T>A
ENST00000682885.1:c.3023T>A	ENSP00000508036.1:p.Leu1008Gln
ENST00000682933.1:n.3142T>A
ENST00000683072.1:n.3652T>A
ENST00000683080.1:n.687T>A
ENST00000683125.1:c.3176T>A	ENSP00000507939.1:p.Leu1059Gln
ENST00000683213.1:c.3071T>A	ENSP00000507751.1:p.Leu1024Gln
ENST00000683220.1:c.3098T>A	ENSP00000507151.1:p.Leu1033Gln
ENST00000683329.1:n.3871T>A
ENST00000683346.1:c.*2943T>A	ENSP00000507458.1:n.*2943T>A
ENST00000683409.1:n.1675T>A
ENST00000683459.1:n.3655T>A
ENST00000683590.1:c.2897-5547T>A	ENSP00000506820.1:n.2897-5547T>A
ENST00000683623.1:c.2975T>A	ENSP00000507702.1:p.Leu992Gln
ENST00000683645.1:n.3619T>A
ENST00000683796.1:c.*2940T>A	ENSP00000508221.1:n.*2940T>A
ENST00000683802.1:n.5993T>A
ENST00000683833.1:c.3059T>A	ENSP00000506852.1:p.Leu1020Gln
ENST00000683994.1:c.3068T>A	ENSP00000507181.1:p.Leu1023Gln
ENST00000684290.1:c.*604T>A	ENSP00000507243.1:n.*604T>A
ENST00000684306.1:c.*2981T>A	ENSP00000508384.1:n.*2981T>A
ENST00000684341.1:n.3088T>A
ENST00000684383.1:c.*2706T>A	ENSP00000506863.1:n.*2706T>A
ENST00000684619.1:c.*2940T>A	ENSP00000508088.1:n.*2940T>A
ENST00000684705.1:n.189T>A
ENST00000684743.1:n.4099T>A
ENST00000260665.12:c.3068T>A MANE Select	ENSP00000260665.7:p.Leu1023Gln
ENST00000260665.11:c.3068T>A	ENSP00000260665.7:p.Leu1023Gln
NM_133259.3:c.3068T>A	NP_573566.2:p.Leu1023Gln
XM_006711915.2:c.2990T>A	XP_006711978.1:p.Leu997Gln
XM_006711916.2:c.3068T>A	XP_006711979.1:p.Leu1023Gln
XM_011532473.1:c.3068T>A	XP_011530775.1:p.Leu1023Gln
XM_011532474.1:c.3068T>A	XP_011530776.1:p.Leu1023Gln
XM_006711916.3:c.3068T>A	XP_006711979.1:p.Leu1023Gln
XM_017003117.1:c.2990T>A	XP_016858606.1:p.Leu997Gln
XR_002958896.1:n.3110T>A
NM_133259.4:c.3068T>A MANE Select	NP_573566.2:p.Leu1023Gln