Canonical Allele Identifier: CA346665095

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1443874776
• gnomAD v2: 2-44132903-T-C
• MyVariant Identifiers: chr2:g.44132903T>C (hg19) ; chr2:g.43905764T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905764T>C , CM000664.2:g.43905764T>C	GRCh38
NC_000002.11:g.44132903T>C , CM000664.1:g.44132903T>C	GRCh37
NC_000002.10:g.43986407T>C	NCBI36
NG_008247.1:g.95242A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.371A>G
ENST00000681993.1:n.844A>G
ENST00000682295.1:c.447A>G	ENSP00000507499.1:n.447A>G
ENST00000682303.1:c.*3078A>G	ENSP00000508325.1:n.*3078A>G
ENST00000682308.1:c.3292A>G	ENSP00000507056.1:p.Lys1098Glu
ENST00000682480.1:c.3310A>G	ENSP00000508344.1:p.Lys1104Glu
ENST00000682546.1:c.3289A>G	ENSP00000508188.1:p.Lys1097Glu
ENST00000682585.1:c.3292A>G	ENSP00000506885.1:p.Lys1098Glu
ENST00000682595.1:n.3876A>G
ENST00000682607.1:c.1710A>G
ENST00000682612.1:c.144A>G
ENST00000682779.1:c.3283A>G	ENSP00000507947.1:p.Lys1095Glu
ENST00000682845.1:n.2394A>G
ENST00000682885.1:c.3247A>G	ENSP00000508036.1:p.Lys1083Glu
ENST00000682933.1:n.3366A>G
ENST00000683002.1:c.144A>G
ENST00000683072.1:n.3876A>G
ENST00000683080.1:n.911A>G
ENST00000683125.1:c.3400A>G	ENSP00000507939.1:p.Lys1134Glu
ENST00000683213.1:c.3295A>G	ENSP00000507751.1:p.Lys1099Glu
ENST00000683220.1:c.3322A>G	ENSP00000507151.1:p.Lys1108Glu
ENST00000683329.1:n.4095A>G
ENST00000683346.1:c.*3167A>G	ENSP00000507458.1:n.*3167A>G
ENST00000683409.1:n.1899A>G
ENST00000683459.1:n.3879A>G
ENST00000683528.1:c.144A>G
ENST00000683590.1:c.3040A>G	ENSP00000506820.1:p.Lys1014Glu
ENST00000683623.1:c.3199A>G	ENSP00000507702.1:p.Lys1067Glu
ENST00000683645.1:n.3843A>G
ENST00000683796.1:c.*3164A>G	ENSP00000508221.1:n.*3164A>G
ENST00000683802.1:n.6217A>G
ENST00000683833.1:c.3283A>G	ENSP00000506852.1:p.Lys1095Glu
ENST00000683994.1:c.3292A>G	ENSP00000507181.1:p.Lys1098Glu
ENST00000684290.1:c.*828A>G	ENSP00000507243.1:n.*828A>G
ENST00000684306.1:c.*3205A>G	ENSP00000508384.1:n.*3205A>G
ENST00000684341.1:n.3312A>G
ENST00000684383.1:c.*2930A>G	ENSP00000506863.1:n.*2930A>G
ENST00000684418.1:n.4473A>G
ENST00000684454.1:n.2642A>G
ENST00000684619.1:c.*3164A>G	ENSP00000508088.1:n.*3164A>G
ENST00000684743.1:n.4323A>G
ENST00000260665.12:c.3292A>G MANE Select	ENSP00000260665.7:p.Lys1098Glu
ENST00000260665.11:c.3292A>G	ENSP00000260665.7:p.Lys1098Glu
NM_133259.3:c.3292A>G	NP_573566.2:p.Lys1098Glu
XM_006711915.2:c.3214A>G	XP_006711978.1:p.Lys1072Glu
XM_011532473.1:c.3292A>G	XP_011530775.1:p.Lys1098Glu
XM_011532474.1:c.3292A>G	XP_011530776.1:p.Lys1098Glu
XM_017003117.1:c.3214A>G	XP_016858606.1:p.Lys1072Glu
XR_002958896.1:n.3334A>G
NM_133259.4:c.3292A>G MANE Select	NP_573566.2:p.Lys1098Glu