Canonical Allele Identifier: CA425908477

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2770303
• ClinVar RCV Id: RCV003580609
• MyVariant Identifiers: chr2:g.44145201T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918062T>C , CM000664.2:g.43918062T>C	GRCh38
NC_000002.11:g.44145201T>C , CM000664.1:g.44145201T>C	GRCh37
NC_000002.10:g.43998705T>C	NCBI36
NG_008247.1:g.82944A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.663A>G
ENST00000682295.1:c.303+194A>G	ENSP00000507499.1:n.303+194A>G
ENST00000682303.1:c.*2897A>G	ENSP00000508325.1:n.*2897A>G
ENST00000682308.1:c.3111A>G	ENSP00000507056.1:p.Lys1037=
ENST00000682480.1:c.3129A>G	ENSP00000508344.1:p.Lys1043=
ENST00000682546.1:c.3108A>G	ENSP00000508188.1:p.Lys1036=
ENST00000682585.1:c.3111A>G	ENSP00000506885.1:p.Lys1037=
ENST00000682595.1:n.3695A>G
ENST00000682607.1:c.1529A>G
ENST00000682779.1:c.3102A>G	ENSP00000507947.1:p.Lys1034=
ENST00000682845.1:n.2213A>G
ENST00000682885.1:c.3066A>G	ENSP00000508036.1:p.Lys1022=
ENST00000682933.1:n.3185A>G
ENST00000683072.1:n.3695A>G
ENST00000683080.1:n.730A>G
ENST00000683125.1:c.3219A>G	ENSP00000507939.1:p.Lys1073=
ENST00000683213.1:c.3114A>G	ENSP00000507751.1:p.Lys1038=
ENST00000683220.1:c.3141A>G	ENSP00000507151.1:p.Lys1047=
ENST00000683329.1:n.3914A>G
ENST00000683346.1:c.*2986A>G	ENSP00000507458.1:n.*2986A>G
ENST00000683409.1:n.1718A>G
ENST00000683459.1:n.3698A>G
ENST00000683590.1:c.2897-5504A>G	ENSP00000506820.1:n.2897-5504A>G
ENST00000683623.1:c.3018A>G	ENSP00000507702.1:p.Lys1006=
ENST00000683645.1:n.3662A>G
ENST00000683796.1:c.*2983A>G	ENSP00000508221.1:n.*2983A>G
ENST00000683802.1:n.6036A>G
ENST00000683833.1:c.3102A>G	ENSP00000506852.1:p.Lys1034=
ENST00000683994.1:c.3111A>G	ENSP00000507181.1:p.Lys1037=
ENST00000684290.1:c.*647A>G	ENSP00000507243.1:n.*647A>G
ENST00000684306.1:c.*3024A>G	ENSP00000508384.1:n.*3024A>G
ENST00000684341.1:n.3131A>G
ENST00000684383.1:c.*2749A>G	ENSP00000506863.1:n.*2749A>G
ENST00000684619.1:c.*2983A>G	ENSP00000508088.1:n.*2983A>G
ENST00000684705.1:n.232A>G
ENST00000684743.1:n.4142A>G
ENST00000260665.12:c.3111A>G MANE Select	ENSP00000260665.7:p.Lys1037=
ENST00000260665.11:c.3111A>G	ENSP00000260665.7:p.Lys1037=
NM_133259.3:c.3111A>G	NP_573566.2:p.Lys1037=
XM_006711915.2:c.3033A>G	XP_006711978.1:p.Lys1011=
XM_006711916.2:c.3111A>G	XP_006711979.1:p.Lys1037=
XM_011532473.1:c.3111A>G	XP_011530775.1:p.Lys1037=
XM_011532474.1:c.3111A>G	XP_011530776.1:p.Lys1037=
XM_006711916.3:c.3111A>G	XP_006711979.1:p.Lys1037=
XM_017003117.1:c.3033A>G	XP_016858606.1:p.Lys1011=
XR_002958896.1:n.3153A>G
NM_133259.4:c.3111A>G MANE Select	NP_573566.2:p.Lys1037=