Canonical Allele Identifier: CA425908639

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1000809178
• gnomAD v4: 2-43918364-G-C
• MyVariant Identifiers: chr2:g.44145503G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918364G>C , CM000664.2:g.43918364G>C	GRCh38
NC_000002.11:g.44145503G>C , CM000664.1:g.44145503G>C	GRCh37
NC_000002.10:g.43999007G>C	NCBI36
NG_008247.1:g.82642C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.483C>G
ENST00000682295.1:c.195C>G	ENSP00000507499.1:p.Val65=
ENST00000682303.1:c.*2717C>G	ENSP00000508325.1:n.*2717C>G
ENST00000682308.1:c.2931C>G	ENSP00000507056.1:p.Val977=
ENST00000682480.1:c.2931C>G	ENSP00000508344.1:p.Val977=
ENST00000682546.1:c.2928C>G	ENSP00000508188.1:p.Val976=
ENST00000682585.1:c.2931C>G	ENSP00000506885.1:p.Val977=
ENST00000682595.1:n.3515C>G
ENST00000682607.1:c.1349C>G
ENST00000682779.1:c.2922C>G	ENSP00000507947.1:p.Val974=
ENST00000682845.1:n.2033C>G
ENST00000682885.1:c.2886C>G	ENSP00000508036.1:p.Val962=
ENST00000682933.1:n.3005C>G
ENST00000683072.1:n.3515C>G
ENST00000683080.1:n.550C>G
ENST00000683125.1:c.3039C>G	ENSP00000507939.1:p.Val1013=
ENST00000683213.1:c.2934C>G	ENSP00000507751.1:p.Val978=
ENST00000683220.1:c.2961C>G	ENSP00000507151.1:p.Val987=
ENST00000683236.1:c.261C>G	ENSP00000506891.1:n.261C>G
ENST00000683329.1:n.3734C>G
ENST00000683346.1:c.*2806C>G	ENSP00000507458.1:n.*2806C>G
ENST00000683409.1:n.1538C>G
ENST00000683459.1:n.3518C>G
ENST00000683590.1:c.2897-5806C>G	ENSP00000506820.1:n.2897-5806C>G
ENST00000683623.1:c.2838C>G	ENSP00000507702.1:p.Val946=
ENST00000683645.1:n.3482C>G
ENST00000683796.1:c.*2803C>G	ENSP00000508221.1:n.*2803C>G
ENST00000683802.1:n.5856C>G
ENST00000683833.1:c.2922C>G	ENSP00000506852.1:p.Val974=
ENST00000683994.1:c.2931C>G	ENSP00000507181.1:p.Val977=
ENST00000684290.1:c.*467C>G	ENSP00000507243.1:n.*467C>G
ENST00000684306.1:c.*2844C>G	ENSP00000508384.1:n.*2844C>G
ENST00000684341.1:n.2951C>G
ENST00000684383.1:c.*2569C>G	ENSP00000506863.1:n.*2569C>G
ENST00000684619.1:c.*2803C>G	ENSP00000508088.1:n.*2803C>G
ENST00000684705.1:n.52C>G
ENST00000684743.1:n.3962C>G
ENST00000260665.12:c.2931C>G MANE Select	ENSP00000260665.7:p.Val977=
ENST00000260665.11:c.2931C>G	ENSP00000260665.7:p.Val977=
NM_133259.3:c.2931C>G	NP_573566.2:p.Val977=
XM_006711915.2:c.2853C>G	XP_006711978.1:p.Val951=
XM_006711916.2:c.2931C>G	XP_006711979.1:p.Val977=
XM_011532473.1:c.2931C>G	XP_011530775.1:p.Val977=
XM_011532474.1:c.2931C>G	XP_011530776.1:p.Val977=
XM_006711916.3:c.2931C>G	XP_006711979.1:p.Val977=
XM_017003117.1:c.2853C>G	XP_016858606.1:p.Val951=
XR_002958896.1:n.2973C>G
NM_133259.4:c.2931C>G MANE Select	NP_573566.2:p.Val977=