Canonical Allele Identifier: CA46441784

Gene: LRPPRC

Linked Data

• dbSNP Id: rs969232549
• MyVariant Identifiers: chr2:g.44145199T>A (hg19) ; chr2:g.43918060T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918060T>A , CM000664.2:g.43918060T>A	GRCh38
NC_000002.11:g.44145199T>A , CM000664.1:g.44145199T>A	GRCh37
NC_000002.10:g.43998703T>A	NCBI36
NG_008247.1:g.82946A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.665A>T
ENST00000682295.1:c.303+196A>T	ENSP00000507499.1:n.303+196A>T
ENST00000682303.1:c.*2899A>T	ENSP00000508325.1:n.*2899A>T
ENST00000682308.1:c.3113A>T	ENSP00000507056.1:p.Asp1038Val
ENST00000682480.1:c.3131A>T	ENSP00000508344.1:p.Asp1044Val
ENST00000682546.1:c.3110A>T	ENSP00000508188.1:p.Asp1037Val
ENST00000682585.1:c.3113A>T	ENSP00000506885.1:p.Asp1038Val
ENST00000682595.1:n.3697A>T
ENST00000682607.1:c.1531A>T
ENST00000682779.1:c.3104A>T	ENSP00000507947.1:p.Asp1035Val
ENST00000682845.1:n.2215A>T
ENST00000682885.1:c.3068A>T	ENSP00000508036.1:p.Asp1023Val
ENST00000682933.1:n.3187A>T
ENST00000683072.1:n.3697A>T
ENST00000683080.1:n.732A>T
ENST00000683125.1:c.3221A>T	ENSP00000507939.1:p.Asp1074Val
ENST00000683213.1:c.3116A>T	ENSP00000507751.1:p.Asp1039Val
ENST00000683220.1:c.3143A>T	ENSP00000507151.1:p.Asp1048Val
ENST00000683329.1:n.3916A>T
ENST00000683346.1:c.*2988A>T	ENSP00000507458.1:n.*2988A>T
ENST00000683409.1:n.1720A>T
ENST00000683459.1:n.3700A>T
ENST00000683590.1:c.2897-5502A>T	ENSP00000506820.1:n.2897-5502A>T
ENST00000683623.1:c.3020A>T	ENSP00000507702.1:p.Asp1007Val
ENST00000683645.1:n.3664A>T
ENST00000683796.1:c.*2985A>T	ENSP00000508221.1:n.*2985A>T
ENST00000683802.1:n.6038A>T
ENST00000683833.1:c.3104A>T	ENSP00000506852.1:p.Asp1035Val
ENST00000683994.1:c.3113A>T	ENSP00000507181.1:p.Asp1038Val
ENST00000684290.1:c.*649A>T	ENSP00000507243.1:n.*649A>T
ENST00000684306.1:c.*3026A>T	ENSP00000508384.1:n.*3026A>T
ENST00000684341.1:n.3133A>T
ENST00000684383.1:c.*2751A>T	ENSP00000506863.1:n.*2751A>T
ENST00000684619.1:c.*2985A>T	ENSP00000508088.1:n.*2985A>T
ENST00000684705.1:n.234A>T
ENST00000684743.1:n.4144A>T
ENST00000260665.12:c.3113A>T MANE Select	ENSP00000260665.7:p.Asp1038Val
ENST00000260665.11:c.3113A>T	ENSP00000260665.7:p.Asp1038Val
NM_133259.3:c.3113A>T	NP_573566.2:p.Asp1038Val
XM_006711915.2:c.3035A>T	XP_006711978.1:p.Asp1012Val
XM_006711916.2:c.3113A>T	XP_006711979.1:p.Asp1038Val
XM_011532473.1:c.3113A>T	XP_011530775.1:p.Asp1038Val
XM_011532474.1:c.3113A>T	XP_011530776.1:p.Asp1038Val
XM_006711916.3:c.3113A>T	XP_006711979.1:p.Asp1038Val
XM_017003117.1:c.3035A>T	XP_016858606.1:p.Asp1012Val
XR_002958896.1:n.3155A>T
NM_133259.4:c.3113A>T MANE Select	NP_573566.2:p.Asp1038Val