Canonical Allele Identifier: CA46458816

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1038657471
• gnomAD v3: 2-43943781-T-C
• gnomAD v4: 2-43943781-T-C
• MyVariant Identifiers: chr2:g.44170920T>C (hg19) ; chr2:g.43943781T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943781T>C , CM000664.2:g.43943781T>C	GRCh38
NC_000002.11:g.44170920T>C , CM000664.1:g.44170920T>C	GRCh37
NC_000002.10:g.44024424T>C	NCBI36
NG_008247.1:g.57225A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2410A>G	ENSP00000386562.2:p.Thr804Ala
ENST00000447246.2:c.2410A>G	ENSP00000403637.2:p.Thr804Ala
ENST00000681961.1:n.2430A>G
ENST00000682104.1:c.2284A>G	ENSP00000507716.1:p.Thr762Ala
ENST00000682303.1:c.*2196A>G	ENSP00000508325.1:n.*2196A>G
ENST00000682308.1:c.2410A>G	ENSP00000507056.1:p.Thr804Ala
ENST00000682480.1:c.2410A>G	ENSP00000508344.1:p.Thr804Ala
ENST00000682546.1:c.2407A>G	ENSP00000508188.1:p.Thr803Ala
ENST00000682585.1:c.2410A>G	ENSP00000506885.1:p.Thr804Ala
ENST00000682595.1:n.2992A>G
ENST00000682607.1:c.828A>G
ENST00000682779.1:c.2401A>G	ENSP00000507947.1:p.Thr801Ala
ENST00000682845.1:n.1512A>G
ENST00000682885.1:c.2365A>G	ENSP00000508036.1:p.Thr789Ala
ENST00000682933.1:n.2484A>G
ENST00000683072.1:n.2992A>G
ENST00000683125.1:c.2410A>G	ENSP00000507939.1:p.Thr804Ala
ENST00000683213.1:c.2413A>G	ENSP00000507751.1:p.Thr805Ala
ENST00000683220.1:c.2440A>G	ENSP00000507151.1:p.Thr814Ala
ENST00000683329.1:n.3213A>G
ENST00000683346.1:c.*2285A>G	ENSP00000507458.1:n.*2285A>G
ENST00000683459.1:n.2997A>G
ENST00000683590.1:c.2410A>G	ENSP00000506820.1:p.Thr804Ala
ENST00000683623.1:c.2317A>G	ENSP00000507702.1:p.Thr773Ala
ENST00000683645.1:n.2961A>G
ENST00000683694.1:n.1161A>G
ENST00000683796.1:c.*2282A>G	ENSP00000508221.1:n.*2282A>G
ENST00000683802.1:n.5335A>G
ENST00000683833.1:c.2401A>G	ENSP00000506852.1:p.Thr801Ala
ENST00000683989.1:c.2410A>G	ENSP00000507510.1:p.Thr804Ala
ENST00000683994.1:c.2410A>G	ENSP00000507181.1:p.Thr804Ala
ENST00000684290.1:c.*104A>G	ENSP00000507243.1:n.*104A>G
ENST00000684306.1:c.*2323A>G	ENSP00000508384.1:n.*2323A>G
ENST00000684341.1:n.2430A>G
ENST00000684383.1:c.*2048A>G	ENSP00000506863.1:n.*2048A>G
ENST00000684397.1:c.114A>G
ENST00000684619.1:c.*2282A>G	ENSP00000508088.1:n.*2282A>G
ENST00000684743.1:n.3441A>G
ENST00000260665.12:c.2410A>G MANE Select	ENSP00000260665.7:p.Thr804Ala
ENST00000260665.11:c.2410A>G	ENSP00000260665.7:p.Thr804Ala
NM_133259.3:c.2410A>G	NP_573566.2:p.Thr804Ala
XM_006711915.2:c.2332A>G	XP_006711978.1:p.Thr778Ala
XM_006711916.2:c.2410A>G	XP_006711979.1:p.Thr804Ala
XM_011532473.1:c.2410A>G	XP_011530775.1:p.Thr804Ala
XM_011532474.1:c.2410A>G	XP_011530776.1:p.Thr804Ala
XM_006711916.3:c.2410A>G	XP_006711979.1:p.Thr804Ala
XM_017003117.1:c.2332A>G	XP_016858606.1:p.Thr778Ala
XR_002958896.1:n.2452A>G
NM_133259.4:c.2410A>G MANE Select	NP_573566.2:p.Thr804Ala