Canonical Allele Identifier: CA346668248

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145247G>T (hg19) ; chr2:g.43918108G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918108G>T , CM000664.2:g.43918108G>T	GRCh38
NC_000002.11:g.44145247G>T , CM000664.1:g.44145247G>T	GRCh37
NC_000002.10:g.43998751G>T	NCBI36
NG_008247.1:g.82898C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.617C>A
ENST00000682295.1:c.303+148C>A	ENSP00000507499.1:n.303+148C>A
ENST00000682303.1:c.*2851C>A	ENSP00000508325.1:n.*2851C>A
ENST00000682308.1:c.3065C>A	ENSP00000507056.1:p.Ser1022Tyr
ENST00000682480.1:c.3083C>A	ENSP00000508344.1:p.Ser1028Tyr
ENST00000682546.1:c.3062C>A	ENSP00000508188.1:p.Ser1021Tyr
ENST00000682585.1:c.3065C>A	ENSP00000506885.1:p.Ser1022Tyr
ENST00000682595.1:n.3649C>A
ENST00000682607.1:c.1483C>A
ENST00000682779.1:c.3056C>A	ENSP00000507947.1:p.Ser1019Tyr
ENST00000682845.1:n.2167C>A
ENST00000682885.1:c.3020C>A	ENSP00000508036.1:p.Ser1007Tyr
ENST00000682933.1:n.3139C>A
ENST00000683072.1:n.3649C>A
ENST00000683080.1:n.684C>A
ENST00000683125.1:c.3173C>A	ENSP00000507939.1:p.Ser1058Tyr
ENST00000683213.1:c.3068C>A	ENSP00000507751.1:p.Ser1023Tyr
ENST00000683220.1:c.3095C>A	ENSP00000507151.1:p.Ser1032Tyr
ENST00000683329.1:n.3868C>A
ENST00000683346.1:c.*2940C>A	ENSP00000507458.1:n.*2940C>A
ENST00000683409.1:n.1672C>A
ENST00000683459.1:n.3652C>A
ENST00000683590.1:c.2897-5550C>A	ENSP00000506820.1:n.2897-5550C>A
ENST00000683623.1:c.2972C>A	ENSP00000507702.1:p.Ser991Tyr
ENST00000683645.1:n.3616C>A
ENST00000683796.1:c.*2937C>A	ENSP00000508221.1:n.*2937C>A
ENST00000683802.1:n.5990C>A
ENST00000683833.1:c.3056C>A	ENSP00000506852.1:p.Ser1019Tyr
ENST00000683994.1:c.3065C>A	ENSP00000507181.1:p.Ser1022Tyr
ENST00000684290.1:c.*601C>A	ENSP00000507243.1:n.*601C>A
ENST00000684306.1:c.*2978C>A	ENSP00000508384.1:n.*2978C>A
ENST00000684341.1:n.3085C>A
ENST00000684383.1:c.*2703C>A	ENSP00000506863.1:n.*2703C>A
ENST00000684619.1:c.*2937C>A	ENSP00000508088.1:n.*2937C>A
ENST00000684705.1:n.186C>A
ENST00000684743.1:n.4096C>A
ENST00000260665.12:c.3065C>A MANE Select	ENSP00000260665.7:p.Ser1022Tyr
ENST00000260665.11:c.3065C>A	ENSP00000260665.7:p.Ser1022Tyr
NM_133259.3:c.3065C>A	NP_573566.2:p.Ser1022Tyr
XM_006711915.2:c.2987C>A	XP_006711978.1:p.Ser996Tyr
XM_006711916.2:c.3065C>A	XP_006711979.1:p.Ser1022Tyr
XM_011532473.1:c.3065C>A	XP_011530775.1:p.Ser1022Tyr
XM_011532474.1:c.3065C>A	XP_011530776.1:p.Ser1022Tyr
XM_006711916.3:c.3065C>A	XP_006711979.1:p.Ser1022Tyr
XM_017003117.1:c.2987C>A	XP_016858606.1:p.Ser996Tyr
XR_002958896.1:n.3107C>A
NM_133259.4:c.3065C>A MANE Select	NP_573566.2:p.Ser1022Tyr