Canonical Allele Identifier: CA346668244

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145245G>T (hg19) ; chr2:g.43918106G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918106G>T , CM000664.2:g.43918106G>T	GRCh38
NC_000002.11:g.44145245G>T , CM000664.1:g.44145245G>T	GRCh37
NC_000002.10:g.43998749G>T	NCBI36
NG_008247.1:g.82900C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.619C>A
ENST00000682295.1:c.303+150C>A	ENSP00000507499.1:n.303+150C>A
ENST00000682303.1:c.*2853C>A	ENSP00000508325.1:n.*2853C>A
ENST00000682308.1:c.3067C>A	ENSP00000507056.1:p.Leu1023Met
ENST00000682480.1:c.3085C>A	ENSP00000508344.1:p.Leu1029Met
ENST00000682546.1:c.3064C>A	ENSP00000508188.1:p.Leu1022Met
ENST00000682585.1:c.3067C>A	ENSP00000506885.1:p.Leu1023Met
ENST00000682595.1:n.3651C>A
ENST00000682607.1:c.1485C>A
ENST00000682779.1:c.3058C>A	ENSP00000507947.1:p.Leu1020Met
ENST00000682845.1:n.2169C>A
ENST00000682885.1:c.3022C>A	ENSP00000508036.1:p.Leu1008Met
ENST00000682933.1:n.3141C>A
ENST00000683072.1:n.3651C>A
ENST00000683080.1:n.686C>A
ENST00000683125.1:c.3175C>A	ENSP00000507939.1:p.Leu1059Met
ENST00000683213.1:c.3070C>A	ENSP00000507751.1:p.Leu1024Met
ENST00000683220.1:c.3097C>A	ENSP00000507151.1:p.Leu1033Met
ENST00000683329.1:n.3870C>A
ENST00000683346.1:c.*2942C>A	ENSP00000507458.1:n.*2942C>A
ENST00000683409.1:n.1674C>A
ENST00000683459.1:n.3654C>A
ENST00000683590.1:c.2897-5548C>A	ENSP00000506820.1:n.2897-5548C>A
ENST00000683623.1:c.2974C>A	ENSP00000507702.1:p.Leu992Met
ENST00000683645.1:n.3618C>A
ENST00000683796.1:c.*2939C>A	ENSP00000508221.1:n.*2939C>A
ENST00000683802.1:n.5992C>A
ENST00000683833.1:c.3058C>A	ENSP00000506852.1:p.Leu1020Met
ENST00000683994.1:c.3067C>A	ENSP00000507181.1:p.Leu1023Met
ENST00000684290.1:c.*603C>A	ENSP00000507243.1:n.*603C>A
ENST00000684306.1:c.*2980C>A	ENSP00000508384.1:n.*2980C>A
ENST00000684341.1:n.3087C>A
ENST00000684383.1:c.*2705C>A	ENSP00000506863.1:n.*2705C>A
ENST00000684619.1:c.*2939C>A	ENSP00000508088.1:n.*2939C>A
ENST00000684705.1:n.188C>A
ENST00000684743.1:n.4098C>A
ENST00000260665.12:c.3067C>A MANE Select	ENSP00000260665.7:p.Leu1023Met
ENST00000260665.11:c.3067C>A	ENSP00000260665.7:p.Leu1023Met
NM_133259.3:c.3067C>A	NP_573566.2:p.Leu1023Met
XM_006711915.2:c.2989C>A	XP_006711978.1:p.Leu997Met
XM_006711916.2:c.3067C>A	XP_006711979.1:p.Leu1023Met
XM_011532473.1:c.3067C>A	XP_011530775.1:p.Leu1023Met
XM_011532474.1:c.3067C>A	XP_011530776.1:p.Leu1023Met
XM_006711916.3:c.3067C>A	XP_006711979.1:p.Leu1023Met
XM_017003117.1:c.2989C>A	XP_016858606.1:p.Leu997Met
XR_002958896.1:n.3109C>A
NM_133259.4:c.3067C>A MANE Select	NP_573566.2:p.Leu1023Met